Allele Registry

Canonical Allele Identifier: PA097322

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020174

RCV000167902

RCV000236824

RCV000789234

ClinVar Variation:

21084

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Arg15Trp	CA333982 NM_000166.6:c.43C>T