Canonical Allele Identifier: PA915971903
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637211
ClinVar RCV Id: RCV000789277 RCV002535800
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro158Ser
CA413502659
NM_001097642.3:c.472C>T