Allele Registry

Canonical Allele Identifier: PA252562

Gene: KCNQ1 HGNC NCBI

ClinVar Allele:

18155

ClinVar RCV:

RCV000003263

RCV000057808

RCV000182136

RCV001386969

RCV001841222

RCV002444417

ClinVar Variation:

3116

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Thr185Ile	CA008759 NM_181798.1:c.554C>T