Allele Registry

Canonical Allele Identifier: PA645422563

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678178

ClinVar Variation:

369797

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ala501Pro	CA10654788 NM_172107.3:c.1501G>C