Canonical Allele Identifier: PA645431100
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246094
ClinVar RCV Id: RCV000235732 RCV000789177 RCV001203741
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ile28Thr
CA10584633
NM_001097642.3:c.83T>C