Allele Registry

Canonical Allele Identifier: PA2830347065

Gene: KCNQ2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020972

RCV000117341

RCV000465560

RCV000514872

RCV000616102

RCV001089306

RCV001703417

RCV002313718

RCV003315295

ClinVar Variation:

21764

445484

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Glu484Asp	CA288924 NM_172108.3:c.1452G>C CA9958409 NM_172108.3:c.1452G>T