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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000504410.1:p.[Gly130_Pro141delinsSerSerGlnGlyArgGluHisGlnProPheAlaPhe;Pro143Leu;Ala145_Ser146delinsIleTyr;Arg148_Arg152delinsProPheThrGluAsp;His154_Ala158delinsProSerValGlyGln]
CA2962391553
ENST00000676907.1:c.385_386del