Canonical Allele Identifier: PA2827786475
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 448255
ClinVar RCV Id: RCV000518137 RCV000690853 RCV002289705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg1568His
CA1942737
NM_001353958.2:c.4703G>A