Canonical Allele Identifier: PA2826258116
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 495270
ClinVar RCV Id: RCV000585806 RCV001853962
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Tyr165His
CA349075669
NM_001202435.3:c.493T>C