Allele Registry

Canonical Allele Identifier: PA341593

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020169

RCV000789264

ClinVar Variation:

21079

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Glu41Asp	CA341591 NM_000166.6:c.123G>C CA413501011 NM_000166.6:c.123G>T