Canonical Allele Identifier: PA2830346860
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687237
ClinVar RCV Id: RCV002250919

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Phe316Leu
CA409652289
NM_172108.3:c.948T>G
CA409652290
NM_172108.3:c.948T>A
CA409652298
NM_172108.3:c.946T>C