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rs863224902

From SNPedia

ClinVar
Risk rs863224902(ATTT;ATTT)
Alt rs863224902(ATTT;ATTT)
Reference rs863224902(;)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21116645_21116648dupAAAT
CLNSRC
CLNACC RCV000197375.1,