Canonical Allele Identifier: PA2827790172
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93639
ClinVar RCV Id: RCV000255810 RCV000546041 RCV000781835 RCV002247477 RCV002274894 RCV003992180 RCV004537326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg45His
CA266833
NM_001353961.2:c.134G>A