This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451588.1:p.[Arg38_Ser39delinsGlyAla;Gly41_Arg50delinsAlaThrLeuSerHisTyrLeuMetAspAsp;Gln52_Glu63delinsArgValThrProGlyArgTrpTrpSerLysMetArg]
CA2625555468
ENST00000556864.5:c.112del