Allele Registry

Canonical Allele Identifier: PA2829531207

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678178

ClinVar Variation:

369797

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Ala473Pro	CA10654788 NM_004518.5:c.1417G>C