Canonical Allele Identifier: PA2830347442
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 279817
ClinVar Variation Id: 2573137
ClinVar RCV Id: RCV003315384

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Val762Leu
CA9958084
NM_172108.3:c.2284G>T
CA409637410
NM_172108.3:c.2284G>C