Allele Registry

Canonical Allele Identifier: PA2830347006

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187903

RCV001857620

ClinVar Variation:

205905

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Ala439Thr	CA315445 NM_172108.3:c.1315G>A