Canonical Allele Identifier: PA2827781589
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1334456
ClinVar RCV Id: RCV001814639
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Leu253Pro
CA349073567
NM_001353957.2:c.758T>C