Canonical Allele Identifier: PA2828886735
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_001369164.1:p.Phe316Leu
CA409652289
NM_001382235.1:c.948T>G
CA409652290
NM_001382235.1:c.948T>A
CA409652298
NM_001382235.1:c.946T>C