omia.variant:616
Genomic description: NC_006594.3:g.5417388_5417390delinsTACTACTA
Coding DNA description: NM_001290109.2:c.1445_1447delinsTACTACTA
Protein description: NP_001277038.2:p.(N482Ifs*11)
Gene: PNPLA1
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