Allele Registry

Canonical Allele Identifier: PA2828886508

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001561381

ClinVar Variation:

1197529

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Thr114Pro	CA409656459 NM_001382235.1:c.340A>C