{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262606017",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.740G= (p.Gly247=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79560904",
        "rs": 79560904
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 47286385,
          "referenceAllele": "G",
          "start": 47286384
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47286385G=",
        "CM000679.2:g.47286385G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45363751,
          "referenceAllele": "G",
          "start": 45363750
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45363751G=",
        "CM000679.1:g.45363751G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42718750,
          "referenceAllele": "G",
          "start": 42718749
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42718750G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37544,
          "referenceAllele": "G",
          "start": 37543
        }
      ],
      "hgvs": [
        "NG_008332.2:g.37544G=",
        "LRG_481:g.37544G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.740G="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.740G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Gly247="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Gly247="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967002",
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.740G=",
        "LRG_481t1:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967002",
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.740G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Gly247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.740G="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.740G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Gly247="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Gly247="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}