Canonical Allele Identifier: PA645431202
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245904
ClinVar RCV Id: RCV000236069 RCV000698707 RCV000789056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His126Tyr
CA10584639
NM_001097642.3:c.376C>T