PR:000044558 presenilin-1 sequence variant R220P (human) hPSEN1/var:R220P|UniProtKB:P49768-1, Arg-220, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r220p EXP NCBITaxon:9606 Alzforum:psen1-r220p 20180510 PRO:DAN