Allele Registry

Canonical Allele Identifier: PA645509988

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000505521

RCV000731139

RCV003387862

ClinVar Variation:

438620

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Met195Thr	CA387460849 NM_004004.6:c.584T>C