Allele Registry

Canonical Allele Identifier: PA113216

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018546

RCV000018547

RCV000412852

RCV000678868

RCV001175247

RCV002243652

RCV002247355

ClinVar Variation:

17020

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp50Asn	CA127027 NM_004004.6:c.148G>A