Canonical Allele Identifier: PA2827776952
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Glu1226Asp
CA234849
NM_001353954.2:c.3678A>C
CA349054671
NM_001353954.2:c.3678A>T