Canonical Allele Identifier: PA915972139
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637602
ClinVar RCV Id: RCV000789861 RCV001070375 RCV002245668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Cys201Tyr
CA413503269
NM_001097642.3:c.602G>A