Canonical Allele Identifier: PA2827790312
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000059482
ClinVar Variation:
68605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Trp138Gly
CA285099
NM_001353961.2:c.412T>G