Allele Registry

Canonical Allele Identifier: PA2830347119

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678816

ClinVar Variation:

560650

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg522Pro	CA409643977 NM_172108.3:c.1565G>C