Allele Registry

Canonical Allele Identifier: PA211526

Gene: KCNQ1 HGNC NCBI

MaveDb:

Score 0.956287857

ClinVar RCV:

RCV000030815

RCV000057723

RCV000119056

RCV000148547

RCV000252730

ClinVar Variation:

37255

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Val205Met	CA007777 NM_000218.3:c.613G>A