Allele Registry

Canonical Allele Identifier: PA2829529541

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000203587

RCV000820061

ClinVar Variation:

219241

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Leu107Phe	CA347947 NM_004518.5:c.319C>T