Canonical Allele Identifier: PA2827790234
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189924
ClinVar RCV Id: RCV000180876 RCV002515209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu83Ser
CA303322
NM_001353961.2:c.248T>C