Generated Narrative: Bundle bundle-complexVariant-nonHGVS

Bundle bundle-complexVariant-nonHGVS of type transaction

Entry 1 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-1

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Transcript ref sequence ID

value: NM_022787.3

component

code: Genomic allele start-end

value: 769-769

component

code: Genomic ref allele [ID]

value: G

component

code: Genomic alt allele [ID]

value: A

component

code: Allelic state

value: Heterozygous

Request:

POST Observation

Entry 2 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-2

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Transcript ref sequence ID

value: NM_022787.3

component

code: Genomic allele start-end

value: 53-53

component

code: Genomic ref allele [ID]

value: A

component

code: Genomic alt allele [ID]

value: G

component

code: Allelic state

value: Heterozygous

Request:

POST Observation

Entry 3 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-3

status: Final

category: Laboratory, Genetics

code: Genotype display name

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy

hasMember:

• unpacked representation of NM_022787.3:c.53A>G
• unpacked representation of NM_022787.3:c.769G>A

Request:

POST Observation

Entry 4 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

Resource Organization:

Generated Narrative: Organization performingLab

name: aTypingLab Inc

alias: aTL

Contacts

-	Telecom	Address
*	ph: 1-800-555-1234(Work)	123 Main St, Sometown, ND 99999(work)

Request:

POST Organization

Entry 5 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

Resource Patient:

Generated Narrative: Patient patient

John Storm(official) Male, DoB: 1986-12-31

---

Request:

POST Patient