Canonical Allele Identifier: PA2827750440
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68505
ClinVar RCV Id: RCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg393Cys
CA284868
NM_001353948.2:c.1177C>T