Canonical Allele Identifier: PA2827772094
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206875
ClinVar RCV Id: RCV000488340 RCV000692247 RCV001136462 RCV001136463 RCV002345677 RCV003128398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Gly1869Glu
CA317645
NM_001353951.2:c.5606G>A