ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826010880
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839613
ClinVar RCV Id:
RCV001041410
RCV002481886
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Glu1698Lys
CA1942695
NM_001165963.4:c.5092G>A