Canonical Allele Identifier: PA303303
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189917
ClinVar RCV Id: RCV000180869 RCV001071061
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Met785Val
CA303300
NM_001165963.4:c.2353A>G