Canonical Allele Identifier: PA342459
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21755
ClinVar RCV Id: RCV000678052 RCV002274886
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Leu339Arg
CA342458
NM_172107.3:c.1016T>G