Allele Registry

Canonical Allele Identifier: PA2829531314

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000578391

RCV001322734

ClinVar Variation:

488537

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg513Thr	CA409645148 NM_004518.5:c.1538G>C