Allele Registry

Canonical Allele Identifier: PA2830390265

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

1177444

ClinVar RCV:

RCV001544877

RCV002032550

RCV003298922

RCV003591880

ClinVar Variation:

1185948

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Arg239Leu	CA379133861 NM_181798.1:c.716G>T