Canonical Allele Identifier: PA2827790393
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189905
ClinVar RCV Id: RCV000180857 RCV000188906
ClinVar Variation Id: 967462
ClinVar RCV Id: RCV001242378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Phe181Leu
CA303267
NM_001353961.2:c.543T>G
CA349060532
NM_001353961.2:c.543T>A
CA349060540
NM_001353961.2:c.541T>C