Canonical Allele Identifier: PA2580229295
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1701394
ClinVar RCV Id: RCV002276082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Thr782Ile
CA349064114
NM_001353948.2:c.2345C>T