Canonical Allele Identifier: PA2827752122
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1983189
ClinVar RCV Id: RCV002770127
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.His1020Asp
CA349060197
NM_001353948.2:c.3058C>G