Allele Registry

Canonical Allele Identifier: PA305677

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057827

RCV000182143

RCV000223841

RCV000466144

RCV002381371

RCV002468561

RCV003040375

ClinVar Variation:

67130

2129108

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Pro320Ser	CA008910 NM_000218.3:c.958C>T CA2580082604 NM_000218.3:c.957_958delinsTT