PR:000037664 presenilin-1 sequence variant A246E (human) hPSEN1/var:A246E|UniProtKB:P49768-1, Ala-246, CHEBI:29972 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a246e EXP NCBITaxon:9606 Alzforum:psen1-a246e 20180510 PRO:DAN