Canonical Allele Identifier: PA303494
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189990
ClinVar RCV Id: RCV000180946 RCV001219498 RCV002272155
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Leu1352Pro
CA303491
NM_001165963.4:c.4055T>C