ClinGen Allele Registry
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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
ENSP00000451429.1:p.Phe177Leu
ENST00000557511.5:c.529T>C
ENST00000557511.5:c.531T>A
ENST00000557511.5:c.531T>G
