Allele Registry

Canonical Allele Identifier: PA1139750454

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000007811

RCV000187862

RCV000623725

RCV000636312

RCV000678084

RCV002255996

RCV003315293

ClinVar Variation:

7386

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Arg207Trp	CA118744 NM_172109.3:c.619C>T