Canonical Allele Identifier: PA2827788252
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68518
ClinVar RCV Id: RCV000059390 RCV002513779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Thr783Arg
CA284895
NM_001353960.2:c.2348C>G