Allele Registry

Canonical Allele Identifier: PA306021

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000046103

RCV000057730

RCV000182302

RCV001256914

RCV001841649

RCV002362677

RCV002504939

RCV003335079

ClinVar Variation:

53083

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Ser98Leu	CA007870 NM_181798.1:c.293C>T