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)
Matching Registered Transcripts
ENSP00000514929.1:p.Met146Leu
CA225022
ENST00000700302.1:c.436A>T
CA341490
ENST00000700302.1:c.436A>C