Canonical Allele Identifier: PA2827761551
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ile1771Met
CA285234
NM_001353949.2:c.5313C>G