Canonical Allele Identifier: PA2827760127
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12892
ClinVar RCV Id: RCV000013752 RCV000059508
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Val1417Ala
CA256605
NM_001353949.2:c.4250T>C