Canonical Allele Identifier: PA2826009610
Gene: SCN1A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Tyr790Phe
CA1943130
NM_001165963.4:c.2369A>T