Canonical Allele Identifier: PA2827781966
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 418475
ClinVar RCV Id: RCV000486171 RCV003766659 RCV003989533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Arg500Trp
CA1943296
NM_001353957.2:c.1498C>T