Canonical Allele Identifier: PA2827769524
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68578
ClinVar RCV Id: RCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Thr226Met
CA285042
NM_001353951.2:c.677C>T