Allele Registry

Canonical Allele Identifier: PA2830344567

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000414529

ClinVar Variation:

372909

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Phe248Ser	CA16043147 NM_172106.3:c.743T>C