Allele Registry

Canonical Allele Identifier: PA645431245

Gene: GJB1 HGNC NCBI

ClinVar Allele:

245189

ClinVar RCV:

RCV000236009

RCV000688999

RCV000789850

RCV003388834

ClinVar Variation:

246098

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Arg215Trp	CA10584644 NM_001097642.3:c.643C>T