Allele Registry

Canonical Allele Identifier: PA2830344991

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678178

ClinVar Variation:

369797

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Ala483Pro	CA10654788 NM_172106.3:c.1447G>C