Allele Registry

Canonical Allele Identifier: PA2829531482

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000992226

RCV001046813

ClinVar Variation:

804957

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg553Pro	CA409643394 NM_004518.5:c.1658G>C