Allele Registry

Canonical Allele Identifier: PA916062343

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

34637

ClinVar RCV:

RCV000678076

RCV001851983

ClinVar Variation:

21785

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Lys116del	CA342504 NM_172109.3:c.346_348del