Canonical Allele Identifier: PA2827790180
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189863
ClinVar RCV Id: RCV000180816
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu49Trp
CA303139
NM_001353961.2:c.146T>G