Allele Registry

Canonical Allele Identifier: PA916062593

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000417017

RCV002254528

RCV002312315

ClinVar Variation:

375517

587825

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Arg291Ser	CA16044333 NM_172109.3:c.873G>T CA409652601 NM_172109.3:c.873G>C