PR:000045467 presenilin-1 sequence variant A246P (human) hPSEN1/var:A246P|UniProtKB:P49768-1, Ala-246, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a246p EXP NCBITaxon:9606 Alzforum:psen1-a246p 20180510 PRO:DAN