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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
XP_011535274.1:p.Ile83_Met84del
XM_011536972.2:c.247_252del
XM_011536972.2:c.[247_252del;254T=]
XM_011536972.2:c.[247_252del;255C>A]
XM_011536972.2:c.[247_252del;255C=]
XM_011536972.2:c.[247_252del;255C>G]
XM_011536972.2:c.[247_252del;255C>T]
