Canonical Allele Identifier: PA2827780460
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 496120
ClinVar RCV Id: RCV000587898 RCV000764285 RCV001262414 RCV001337164 RCV002317333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Val1526Ile
CA1942758
NM_001353955.2:c.4576G>A