Canonical Allele Identifier: PA2827750930
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 167646
ClinVar RCV Id: RCV000471353 RCV000515440 RCV000710209 RCV002408682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg580Gln
CA234868
NM_001353948.2:c.1739G>A