Allele Registry

Canonical Allele Identifier: PA1139745387

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187932

RCV000807433

ClinVar Variation:

205930

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Arg709His	CA315520 NM_001382235.1:c.2126G>A