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PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build -

PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build - ci-build

PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions

Example Basic: Example Variant Occurrence

Target region ID relationship: Basic Gene-level target region

Reference sequence: NM_007294.4

dbSNP rsID: rs80357713

Reference allele: A

Alternate allele: C

HGVS c. notation: c.5266dupC

HGVS p. notation: p.(Gln1756Profs*74)

Variant read depth: 120

Variant exon number: 20

Copy number: 2

CNV locus: chr17:43044295-43125482

Fusion breakpoint: NA

Fusion supporting reads: 0

Sequence alteration: missense_variant

Variant feature: pathogenic_variant

Genetic origin: somatic

Genotype: heterozygous

identifier: https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-occurrence-id/VO0001

code: Single nucleotide variant