Canonical Allele Identifier: PA916036478
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68609
ClinVar RCV Id: RCV000059486 RCV000519810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Gly979Arg
CA285111
NM_001353948.2:c.2935G>A
CA349060767
NM_001353948.2:c.2935G>C