Canonical Allele Identifier: PA2827750347
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68502
ClinVar RCV Id: RCV000059374 RCV000180936 RCV000188861 RCV001226020 RCV001775078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg377Gln
CA266086
NM_001353948.2:c.1130G>A