Canonical Allele Identifier: PA2827786178
Gene: SCN1A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Gly1393Glu
CA16617290
NM_001353958.2:c.4178G>A