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
ENSP00000452477.2:p.[Ser39_Leu40delinsThrAsp;His42_Pro45delinsAlaLeuAlaThr;Asn48_Arg50delinsHisTyrLeuMetAspAsp;Gln52_Glu68delinsArgValThrProGlyArgTrpTrpSerLysMetArgLysLysMetArgSer]
CA2625555438
ENST00000553599.6:c.108_115dup