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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
ENSP00000514901.1:p.Leu162del
ENST00000700265.1:c.[484C>A;489_491del]
ENST00000700265.1:c.484_486del
ENST00000700265.1:c.[484_486del;488T=]
ENST00000700265.1:c.[484_486del;489T>A]
ENST00000700265.1:c.[484_486del;489T>C]
ENST00000700265.1:c.[484_486del;489T=]