Canonical Allele Identifier: PA658663764
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447437
ClinVar RCV Id: RCV000517022 RCV000789285
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val192Phe
CA413503209
NM_001097642.3:c.574G>T