Allele Registry

Canonical Allele Identifier: PA305539

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

67734

ClinVar RCV:

RCV000046081

RCV000057701

RCV000182084

RCV003319310

RCV004017352

ClinVar Variation:

53066

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Leu60Pro	CA007460 NM_181798.1:c.179T>C