Canonical Allele Identifier: PA2827786827
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ile1754Met
CA285234
NM_001353958.2:c.5262C>G