Canonical Allele Identifier: PA2827780540
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68553
ClinVar RCV Id: RCV000059427 RCV000188978 RCV000794558 RCV001031013 RCV001253159 RCV002265592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Arg1584Cys
CA145250
NM_001353955.2:c.4750C>T