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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
ENSP00000514950.1:p.Leu166del
ENST00000700323.1:c.[496C>A;501_503del]
ENST00000700323.1:c.496_498del
ENST00000700323.1:c.[496_498del;500T=]
ENST00000700323.1:c.[496_498del;501T>A]
ENST00000700323.1:c.[496_498del;501T>C]
ENST00000700323.1:c.[496_498del;501T=]