omia.variant:762

Genomic description: NC_006596.3:g.(19918265_19918268delinsTGTCATTGG)

Coding DNA description: NM_001003187.1:c.3856_3859delinsTGTCATTGG

Protein description: NP_001003187.:p.(L1286Cfs*31)

Gene: COL1A2

Phenes where this variant occurs: