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1.

rs971757977 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:55039949 (GRCh38)
    1:55505622 (GRCh37)
    Canonical SPDI:
    NC_000001.11:55039948:T:C
    Gene:
    PCSK9 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000043/1 (ALFA)
    C=0.000005/1 (GnomAD_exomes)
    C=0.000019/5 (TOPMED)
    HGVS:

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