Allele Registry

Canonical Allele Identifier: PA645430629

Gene: GJA1 HGNC NCBI

ClinVar RCV:

RCV000185624

RCV000703618

ClinVar Variation:

203468

HGVS (amino-acid)	Matching Registered Transcripts
NP_000156.1:p.Glu227Asp	CA10575733 NM_000165.5:c.681A>T CA365559554 NM_000165.5:c.681A>C