Allele Registry

Canonical Allele Identifier: PA2829532132

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

134789

ClinVar RCV:

RCV000117347

RCV000461909

RCV000678205

RCV000990327

ClinVar Variation:

129343

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg843Ser	CA288935 NM_004518.5:c.2529G>T CA409636308 NM_004518.5:c.2529G>C