Allele Registry

Canonical Allele Identifier: PA2829530765

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678157

RCV002523838

ClinVar Variation:

369777

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Trp344Arg	CA10654802 NM_004518.5:c.1030T>C CA409651290 NM_004518.5:c.1030T>A