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1.

rs515726185 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    8:102225020 (GRCh38)
    8:103237248 (GRCh37)
    Canonical SPDI:
    NC_000008.11:102225019:T:C,NC_000008.11:102225019:T:G
    Gene:
    RRM2B (Varview)
    Functional Consequence:
    splice_acceptor_variant
    Clinical significance:
    pathogenic
    Validated:
    by cluster
    HGVS:

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