Canonical Allele Identifier: PA2826260561
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Ile1782Met
CA285234
NM_001202435.3:c.5346C>G