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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515002.1:p.[Ser39_Leu40delinsThrAsp;His42_Pro45delinsAlaLeuAlaThr;Asn48_Arg50delinsHisTyrLeuMetAspAsp;Gln52_Glu68delinsArgValThrProGlyArgTrpTrpSerLysMetArgLysLysMetArgSer]
CA2625555438
ENST00000700469.1:c.108_115dup