PR:000037643 presenilin-1 sequence variant G217R (human) hPSEN1/var:G217R|UniProtKB:P49768-1, Gly-217, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g217r EXP NCBITaxon:9606 Alzforum:psen1-g217r 20180510 PRO:DAN