Allele Registry

Canonical Allele Identifier: PA1139750712

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001091372

ClinVar Variation:

871424

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Pro285Leu	CA409652651 NM_172109.3:c.854C>T