Allele Registry

Canonical Allele Identifier: PA328351

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

78009

ClinVar RCV:

RCV000057779

RCV001854185

RCV004019000

ClinVar Variation:

67113

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Leu282Pro	CA008471 NM_000218.3:c.845T>C