Allele Registry

Canonical Allele Identifier: PA104492

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678090

RCV002513155

RCV003315303

ClinVar Variation:

21798

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Leu243Phe	CA342523 NM_172107.3:c.727C>T