Canonical Allele Identifier: PA2826258246
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1440271
ClinVar RCV Id: RCV001950364
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Leu247Pro
CA349073664
NM_001202435.3:c.740T>C