Canonical Allele Identifier: PA108562
Gene: SCN1A HGNC NCBI
ClinVar Allele:
79497
ClinVar RCV:
RCV000059482
ClinVar Variation:
68605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Trp952Gly
CA285099
NM_001165963.4:c.2854T>G