Allele Registry

Canonical Allele Identifier: PA645422138

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

422344

ClinVar RCV:

RCV000494098

RCV000585874

RCV002527074

RCV003315347

RCV003444106

ClinVar Variation:

429212

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ile278Thr	CA409652725 NM_172107.3:c.833T>C