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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514943.1:p.[Ala74_Ala76delinsGln;Leu78_Asp85delinsGluProTrp;Arg87_Thr89del;Gly91Ter]
CA2625555438
ENST00000700316.1:c.212_219dup