Canonical Allele Identifier: PA2827771346
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68544
ClinVar RCV Id: RCV000059418 RCV000812820 RCV003224861
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Pro1440Leu
CA284961
NM_001353951.2:c.4319C>T