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
ENSP00000514945.1:p.[Ser43_Leu44delinsThrAsp;His46_Pro49delinsAlaLeuAlaThr;Asn52_Arg54delinsHisTyrLeuMetAspAsp;Gln56_Glu72delinsArgValThrProGlyArgTrpTrpSerLysMetArgLysLysMetArgSer]
CA2625555438
ENST00000700318.1:c.120_127dup