Canonical Allele Identifier: PA2827775468
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_001340883.1:p.Tyr165His
CA349075669
NM_001353954.2:c.493T>C