Allele Registry

Canonical Allele Identifier: PA916062332

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187850

RCV001070885

RCV003315312

ClinVar Variation:

205862

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Ser113Phe	CA315349 NM_172109.3:c.338C>T