Allele Registry

Canonical Allele Identifier: PA2829531337

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000310621

RCV001855072

RCV004529458

ClinVar Variation:

280703

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Met518Thr	CA10603677 NM_004518.5:c.1553T>C