Canonical Allele Identifier: PA2826260129
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_001189364.1:p.Val1538Ile
CA1942758
NM_001202435.3:c.4612G>A