Allele Registry

Canonical Allele Identifier: PA333984

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020174

RCV000167902

RCV000236824

RCV000789234

ClinVar Variation:

21084

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Arg15Trp	CA333982 NM_001097642.3:c.43C>T