{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9034888",
  "communityStandardTitle": [
    "NM_019112.4(ABCA7):c.5570+5G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537312[alleleid]",
        "alleleId": 537312,
        "preferredName": "NM_019112.4(ABCA7):c.5570+5G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546823",
        "RCV": [
          "RCV000658811",
          "RCV002249387",
          "RCV003928151"
        ],
        "variationId": 546823
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1061892-G-C",
        "id": "19-1061892-G-C",
        "variant": "19:1061892 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1061892G>C?assembly=hg19",
        "id": "chr19:g.1061892G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1061893G>C?assembly=hg38",
        "id": "chr19:g.1061893G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200538373",
        "rs": 200538373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1061892-G-C?dataset=gnomad_r2_1",
        "id": "19-1061892-G-C",
        "variant": "19:1061892 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1061893-G-C?dataset=gnomad_r3",
        "id": "19-1061893-G-C",
        "variant": "19:1061893 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1061893-G-C?dataset=gnomad_r4",
        "id": "19-1061893-G-C",
        "variant": "19:1061893 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1061893,
          "referenceAllele": "G",
          "start": 1061892
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1061893G>C",
        "CM000681.2:g.1061893G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1061892,
          "referenceAllele": "G",
          "start": 1061891
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1061892G>C",
        "CM000681.1:g.1061892G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 1012892,
          "referenceAllele": "G",
          "start": 1012891
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1012892G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26791,
          "referenceAllele": "G",
          "start": 26790
        }
      ],
      "hgvs": [
        "NG_046909.1:g.26791G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616446"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5797,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5797,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000263094.11:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263094.6:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263094.11:c.5570+5G>C"
          },
          "RefSeq": {
            "hgvs": "NM_019112.4:c.5570+5G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263094.6:n.5570+5G>C"
          },
          "RefSeq": {
            "hgvs": "NP_061985.2:n.5570+5G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5870,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5870,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000433129.6:n.5870+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3284,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3284,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000435683.7:c.3284+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465322.2:n.3284+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2561,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2561,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000673773.1:n.2561+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5801,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5801,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000263094.10:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263094.6:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5686,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5686,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000433129.5:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414062.1:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5193,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5193,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000435683.6:c.5156+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465322.1:n.5156+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 903,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "ENST00000525073.6:c.903+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5801,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5801,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "NM_019112.3:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061985.2:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5734,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5734,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_006722616.1:c.5516+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722679.1:n.5516+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3338,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_006722618.2:c.3227+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722681.1:n.3227+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5649,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5649,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527628.1:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525930.1:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5761,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5761,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527629.1:c.5543+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525931.1:n.5543+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5659,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5659,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527630.1:c.5441+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525932.1:n.5441+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5341,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5341,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527631.1:c.5123+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525933.1:n.5123+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5240,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5240,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527632.1:c.5114+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525934.1:n.5114+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3334,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3334,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_011527636.1:c.3227+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525938.1:n.3227+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5788,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5788,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_936148.1:n.5788+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5676,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5676,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_936149.1:n.5676+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5519,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5519,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_936150.1:n.5519+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5803,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5803,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451315.1:c.5585+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307083.1:n.5585+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5678,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5678,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451316.1:c.5585+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307084.1:n.5585+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5776,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5776,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451317.1:c.5558+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307085.1:n.5558+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5749,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5749,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451318.1:c.5531+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307086.1:n.5531+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5674,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5674,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451319.1:c.5456+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307087.1:n.5456+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5548,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5548,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451320.1:c.5330+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307088.1:n.5330+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5356,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5356,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451321.1:c.5138+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307089.1:n.5138+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5255,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5255,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451322.1:c.5129+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307090.1:n.5129+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5803,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5803,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451323.1:c.5585+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307091.1:n.5585+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3353,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3353,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451324.1:c.3242+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307092.1:n.3242+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3351,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3351,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XM_024451325.1:c.3242+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307093.1:n.3242+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5519,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5519,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_001753585.1:n.5519+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5610,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5610,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_001753586.1:n.5610+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5534,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5534,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_002958241.1:n.5534+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5252,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5252,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "XR_002958242.1:n.5252+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5797,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 5797,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000037",
      "geneNCBI_id": 10347,
      "geneSymbol": "ABCA7",
      "hgvs": [
        "NM_019112.4:c.5570+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061985.2:n.5570+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263094.11:c.5570+5G>C"
          },
          "RefSeq": {
            "hgvs": "NM_019112.4:c.5570+5G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263094.6:n.5570+5G>C"
          },
          "RefSeq": {
            "hgvs": "NP_061985.2:n.5570+5G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}