PR:000037760 presenilin-2 sequence variant V214L (human) hPSEN2/var:V214L|UniProtKB:P49810-1, Val-214, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v214l EXP NCBITaxon:9606 Alzforum:psen2-v214l 20180510 PRO:DAN