omia.variant:1192

Genomic description: NC_006608.3:g.8200944_8200945insN[(205)]

Coding DNA description: NM_001003214.1:c.2098-3_2098-2insN[(205)]

Protein description: NP_001003214.1:p.(T700Vfs*6)

Gene: ATP2A2

Phenes where this variant occurs: