Allele Registry

Canonical Allele Identifier: PA2830347092

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000578391

RCV001322734

ClinVar Variation:

488537

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg510Thr	CA409645148 NM_172108.3:c.1529G>C