Allele Registry

Canonical Allele Identifier: PA305930

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000057717

RCV000182240

ClinVar Variation:

67091

HGVS (amino-acid)	Matching Registered Transcripts
NP_000209.2:p.Ala2Val	CA007692 NM_000218.3:c.5C>T