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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000377712.3:p.[Ser43_Leu44delinsThrAsp;His46_Pro49delinsAlaLeuAlaThr;Asn52_Arg54delinsHisTyrLeuMetAspAsp;Gln56_Glu72delinsArgValThrProGlyArgTrpTrpSerLysMetArgLysLysMetArgSer]
CA2625555438
ENST00000394157.7:c.120_127dup