Allele Registry

Canonical Allele Identifier: PA097387

Gene: GJB1 HGNC NCBI

ClinVar Allele:

245189

ClinVar RCV:

RCV000236009

RCV000688999

RCV000789850

RCV003388834

ClinVar Variation:

246098

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Arg215Trp	CA10584644 NM_000166.6:c.643C>T