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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.[Val449_Pro451delinsGlyThrAla;Met453_Gln455delinsTyrGlyProIleSerIleProSerIle;Leu456_Ala457insTyrLeu;Phe458delinsTyrLeuArgLeuGluSer;Gln460delinsGlyCys;Tyr462_Ile463delinsPhePheAsp]
CA2802116943
ENST00000700469.1:c.1345dup