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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_015557.2:p.Ile79_Met80del
NM_007318.3:c.235_240del

NM_007318.3:c.[235_240del;242T=]

NM_007318.3:c.[235_240del;243C>A]

NM_007318.3:c.[235_240del;243C=]

NM_007318.3:c.[235_240del;243C>G]

NM_007318.3:c.[235_240del;243C>T]