Canonical Allele Identifier: PA2827781749
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190018
ClinVar RCV Id: RCV000180974 RCV003588585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Tyr349Cys
CA303567
NM_001353957.2:c.1046A>G