Canonical Allele Identifier: PA2827761186
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68650
ClinVar RCV Id: RCV000059530 RCV000465483 RCV000501085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Tyr1683Cys
CA285210
NM_001353949.2:c.5048A>G