Allele Registry

Canonical Allele Identifier: PA211558

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057593

RCV000148557

RCV000505803

RCV001824592

RCV001841668

RCV002483092

RCV003162436

ClinVar Variation:

67036

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Arg518Gln	CA005903 NM_000218.3:c.1553G>A