Allele Registry

Canonical Allele Identifier: PA2830346801

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000153393

ClinVar Variation:

167207

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Thr287Ile	CA234149 NM_172108.3:c.860C>T