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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000429036.2:p.[Gln228_Ile235delinsHisArgProThr;Ala237_Trp250del;Ala252_Val254del;Leu256_Ile259del]
CA2747990063
ENST00000524196.6:c.684del