Canonical Allele Identifier: PA2827784515
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ser228Pro
CA16044315
NM_001353958.2:c.682T>C