Allele Registry

Canonical Allele Identifier: PA306077

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

197482

ClinVar RCV:

RCV000182318

RCV001852308

RCV002381590

ClinVar Variation:

200904

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Arg325Leu	CA005686 NM_181798.1:c.974G>T