Canonical Allele Identifier: PA2827763346
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189960
ClinVar RCV Id: RCV000180914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Ala342Val
CA303409
NM_001353950.2:c.1025C>T