Allele Registry

Canonical Allele Identifier: PA326234

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

67749

ClinVar RCV:

RCV000057727

RCV000255103

RCV001295604

RCV003485533

RCV003591646

RCV004018950

ClinVar Variation:

53081

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Val215Met	CA007820 NM_000218.3:c.643G>A