Canonical Allele Identifier: PA2827780650
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_001340884.1:p.Arg1645Cys
CA266117
NM_001353955.2:c.4933C>T