Canonical Allele Identifier: PA303216
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189888
ClinVar RCV Id: RCV000180840
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Met379Lys
CA303214
NM_001165963.4:c.1136T>A