PR:000044554 presenilin-1 sequence variant H214N (human) hPSEN1/var:H214N|UniProtKB:P49768-1, His-214, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214n EXP NCBITaxon:9606 Alzforum:psen1-h214n 20180510 PRO:DAN