Canonical Allele Identifier: PA2827750823
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206770
ClinVar RCV Id: RCV000188874 RCV001857646 RCV000585879 RCV002399702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg535His
CA317245
NM_001353948.2:c.1604G>A