Canonical Allele Identifier: PA2827749850
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2036212
ClinVar RCV Id: RCV002894791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Ile252Leu
CA349073583
NM_001353948.2:c.754A>C