Canonical Allele Identifier: PA2829530694
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687237
ClinVar RCV Id: RCV002250919
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Phe316Leu
CA409652289
NM_004518.5:c.948T>G
CA409652290
NM_004518.5:c.948T>A
CA409652298
NM_004518.5:c.946T>C