Canonical Allele Identifier: PA2827790176
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 29884
ClinVar RCV Id: RCV000022765
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg48Gly
CA281752
NM_001353961.2:c.142C>G