Allele Registry

Canonical Allele Identifier: PA2830347527

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000117347

RCV000461909

RCV000678205

RCV000990327

ClinVar Variation:

129343

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg840Ser	CA288935 NM_172108.3:c.2520G>T CA409636308 NM_172108.3:c.2520G>C