{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262600832",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.80-667A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7209700",
        "rs": 7209700
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 47273752,
          "referenceAllele": "A",
          "start": 47273751
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47273752A=",
        "CM000679.2:g.47273752A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45351118,
          "referenceAllele": "A",
          "start": 45351117
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45351118A=",
        "CM000679.1:g.45351118A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42706117,
          "referenceAllele": "A",
          "start": 42706116
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42706117A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24911,
          "referenceAllele": "A",
          "start": 24910
        }
      ],
      "hgvs": [
        "NG_008332.2:g.24911A=",
        "LRG_481:g.24911A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.80-667A="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.80-667A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.80-667A="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.80-667A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 44,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.45-667A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 99,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.80-667A=",
        "LRG_481t1:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 666,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.80-667A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.80-667A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.80-667A="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.80-667A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.80-667A="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.80-667A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}