Allele Registry

Canonical Allele Identifier: PA305622

Gene: KCNQ1 HGNC NCBI

ClinVar RCV:

RCV000046131

RCV000057763

RCV000182116

RCV000250332

RCV002483053

ClinVar Variation:

53108

HGVS (amino-acid)	Matching Registered Transcripts
NP_861463.1:p.Leu139Pro	CA008262 NM_181798.1:c.416T>C