Canonical Allele Identifier: PA2827783595
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68558
ClinVar RCV Id: RCV000059432 RCV000188986 RCV000763457 RCV001198988 RCV001208285 RCV002316217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Arg1617Gln
CA284991
NM_001353957.2:c.4850G>A