Allele Registry

Canonical Allele Identifier: PA645430609

Gene: GJA1 HGNC NCBI

ClinVar Allele:

428501

ClinVar RCV:

RCV000500645

RCV001579352

RCV003517211

ClinVar Variation:

435324

HGVS (amino-acid)	Matching Registered Transcripts
NP_000156.1:p.Arg148Gln	CA146810025 NM_000165.5:c.443G>A