Allele Registry

Canonical Allele Identifier: PA110800

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

18171

ClinVar RCV:

RCV000003280

RCV000057600

RCV000182202

RCV000622131

RCV001851605

ClinVar Variation:

3132

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Ala525Thr	CA005949 NM_000218.3:c.1573G>A