Canonical Allele Identifier: PA2826008977
Gene: SCN1A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Ser228Pro
CA16044315
NM_001165963.4:c.682T>C