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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000429682.1:p.[Val68_Pro72delinsGlySerArgAlaAlaAlaArg;Leu75_Gly84delinsGlyArgAlaAspProGlnIleArgSerGlu;Lys86_Leu97delinsArgAspHisAlaValCysAlaCysHisSer]
CA2586964571
ENST00000495488.5:c.202dup