Allele Registry

Canonical Allele Identifier: PA916062285

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000543280

RCV002527747

ClinVar Variation:

461404

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Pro411Leu	CA9958552 NM_172108.3:c.1232C>T