Allele Registry

Canonical Allele Identifier: PA2829531334

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000032980

RCV002225272

ClinVar Variation:

39761

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Met518Val	CA130531 NM_004518.5:c.1552A>G