Canonical Allele Identifier: PA2827750250
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1497442
ClinVar RCV Id: RCV001996082
ClinVar Variation Id: 1521850
ClinVar RCV Id: RCV002034121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Cys351Ser
CA349071397
NM_001353948.2:c.1052G>C
CA349071403
NM_001353948.2:c.1051T>A