Canonical Allele Identifier: PA341608
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21085
ClinVar RCV Id: RCV000020175 RCV000220506 RCV000789199
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Cys179Tyr
CA341605
NM_001097642.3:c.536G>A