Allele Registry

Canonical Allele Identifier: PA2830346680

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678093

RCV001047068

ClinVar Variation:

21800

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Val250Gly	CA342528 NM_172108.3:c.749T>G