Canonical Allele Identifier: PA2827756570
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68583
ClinVar RCV Id: RCV000059459 RCV003588570
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Trp280Arg
CA285054
NM_001353949.2:c.838T>C
CA349073038
NM_001353949.2:c.838T>A