Allele Registry

Canonical Allele Identifier: PA098958

Gene: GJB1 HGNC NCBI

ClinVar Allele:

245188

ClinVar RCV:

RCV000235289

RCV000789192

RCV000804182

RCV002272191

ClinVar Variation:

245705

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Val181Met	CA10584643 NM_000166.6:c.541G>A