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
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