Canonical Allele Identifier: PA2826258980
Gene: SCN1A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Tyr790Phe
CA1943130
NM_001202435.3:c.2369A>T