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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514930.1:p.[Arg38_Ser39delinsGlyAla;Gly41_Arg50delinsAlaThrLeuSerHisTyrLeuMetAspAsp;Gln52_Glu67delinsArgValThrProGlyArgTrpTrpSerLysMetArgLysLysMetArg]
CA2625555468
ENST00000700303.1:c.112del