Canonical Allele Identifier: PA2827790170
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68592
ClinVar RCV Id: RCV000059468 RCV000255099 RCV001352915 RCV003992174 RCV001382870 RCV002247462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg45Cys
CA266104
NM_001353961.2:c.133C>T