Allele Registry

Canonical Allele Identifier: PA2830347364

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

346010

ClinVar RCV:

RCV000658260

RCV001861170

RCV003315338

ClinVar Variation:

339330

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Gly706Ser	CA9958124 NM_172108.3:c.2116G>A