Allele Registry

Canonical Allele Identifier: PA645430610

Gene: GJA1 HGNC NCBI

ClinVar RCV:

RCV000414964

RCV001198403

ClinVar Variation:

374189

HGVS (amino-acid)	Matching Registered Transcripts
NP_000156.1:p.Lys162Asn	CA16043411 NM_000165.5:c.486G>C CA365559117 NM_000165.5:c.486G>T