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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000450551.1:p.Ile79_Met80del
ENST00000556951.5:c.235_240del

ENST00000556951.5:c.[235_240del;242T=]

ENST00000556951.5:c.[235_240del;243C>A]

ENST00000556951.5:c.[235_240del;243C=]

ENST00000556951.5:c.[235_240del;243C>G]

ENST00000556951.5:c.[235_240del;243C>T]