Canonical Allele Identifier: PA913199545
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68638
ClinVar RCV Id: RCV000059517 RCV000735365 RCV002054913 RCV002336219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Val1612Ile
CA285183
NM_001202435.3:c.4834G>A