Canonical Allele Identifier: PA915971742
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 804720
ClinVar RCV Id: RCV000991853 RCV001303696
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His100Leu
CA413501831
NM_001097642.3:c.299A>T