Canonical Allele Identifier: PA256607
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12892
ClinVar RCV Id: RCV000013752 RCV000059508
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Val1417Ala
CA256605
NM_006920.6:c.4250T>C