Allele Registry

Canonical Allele Identifier: PA2830345036

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000578391

RCV001322734

ClinVar Variation:

488537

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg523Thr	CA409645148 NM_172106.3:c.1568G>C