Canonical Allele Identifier: PA2827771686
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68642
ClinVar RCV Id: RCV000059522 RCV001171717 RCV001711166 RCV003588573 RCV003992175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Arg1646Cys
CA266117
NM_001353951.2:c.4936C>T