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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: PSEN1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_015557.2:p.Ile79_Met80del
NM_007318.3:c.235_240del
NM_007318.3:c.[235_240del;242T=]
NM_007318.3:c.[235_240del;243C>A]
NM_007318.3:c.[235_240del;243C=]
NM_007318.3:c.[235_240del;243C>G]
NM_007318.3:c.[235_240del;243C>T]