Canonical Allele Identifier: PA2827762588
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68615
ClinVar RCV Id: RCV000059492 RCV000433130 RCV001854244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Thr112Ile
CA285126
NM_001353950.2:c.335C>T