Canonical Allele Identifier: PA270645
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155725
ClinVar RCV Id: RCV000143794 RCV002512552
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Met194Val
CA270643
NM_001097642.3:c.580A>G