Canonical Allele Identifier: PA2827766781
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1454054
ClinVar RCV Id: RCV001939397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Ala1430Val
CA349049563
NM_001353950.2:c.4289C>T