PR:000037726 presenilin-1 sequence variant L424H (human) hPSEN1/var:L424H|UniProtKB:P49768-1, Leu-424, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424h EXP NCBITaxon:9606 Alzforum:psen1-l424h 20180510 PRO:DAN