Allele Registry

Canonical Allele Identifier: PA305637

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000046143

RCV000057777

RCV001841654

ClinVar Variation:

53117

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Val280Glu	CA008454 NM_000218.3:c.839T>A