Canonical Allele Identifier: PA2827753588
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68631
ClinVar RCV Id: RCV000059510 RCV001091662 RCV001253411 RCV001854245
ClinVar Variation Id: 1027787
ClinVar RCV Id: RCV001328668 RCV001507578
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Trp1434Arg
CA285165
NM_001353948.2:c.4300T>C
CA349049615
NM_001353948.2:c.4300T>A