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1.

rs267606550 [Homo sapiens]
    CACTGCTGCGGTGTTGCACAGATGC[A/G]TGAACACAGCTCCCTGGGCCATGCT
    Chromosome:
    11:67489370
    Gene:
    AIP (GeneView) MIR6752 (GeneView)
    Functional Consequence:
    missense,upstream variant 2KB
    Allele Origin:
    G(germline)/A(germline,unknown)
    Clinical significance:
    Likely benign
    Validated:
    by cluster,by frequency
    HGVS:
    NC_000011.10:g.67489370G>A, NC_000011.9:g.67256841G>A, NG_008969.1:g.11337G>A, NM_001302959.1:c.206G>A, NM_001302960.1:c.383G>A, NM_003977.2:c.383G>A, NM_003977.3:c.383G>A, NP_001289888.1:p.Arg69His, NP_001289889.1:p.Arg128His, NP_003968.2:p.Arg128His, NP_003968.3:p.Arg128His, NR_106810.1:n.-875G>A

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