Allele Registry

Canonical Allele Identifier: PA2829530229

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000414529

ClinVar Variation:

372909

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Phe248Ser	CA16043147 NM_004518.5:c.743T>C