{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5313211",
  "communityStandardTitle": [
    "NM_000787.4(DBH):c.849C>T (p.Cys283=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1460848",
        "active": true,
        "id": "COSM1460848"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311665[alleleid]",
        "alleleId": 311665,
        "preferredName": "NM_000787.4(DBH):c.849C>T (p.Cys283=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365648",
        "RCV": [
          "RCV000326872"
        ],
        "variationId": 365648
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-136508639-C-T",
        "id": "9-136508639-C-T",
        "variant": "9:136508639 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136508639C>T?assembly=hg19",
        "id": "chr9:g.136508639C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133643517C>T?assembly=hg38",
        "id": "chr9:g.133643517C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78200745",
        "rs": 78200745
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136508639-C-T?dataset=gnomad_r2_1",
        "id": "9-136508639-C-T",
        "variant": "9:136508639 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133643517-C-T?dataset=gnomad_r3",
        "id": "9-133643517-C-T",
        "variant": "9:133643517 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133643517-C-T?dataset=gnomad_r4",
        "id": "9-133643517-C-T",
        "variant": "9:133643517 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133643517,
          "referenceAllele": "C",
          "start": 133643516
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133643517C>T",
        "CM000671.2:g.133643517C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 136508639,
          "referenceAllele": "C",
          "start": 136508638
        }
      ],
      "hgvs": [
        "NC_000009.11:g.136508639C>T",
        "CM000671.1:g.136508639C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135498460,
          "referenceAllele": "C",
          "start": 135498459
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135498460C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12155,
          "referenceAllele": "C",
          "start": 12154
        }
      ],
      "hgvs": [
        "NG_008645.1:g.12155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.3:c.696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.3:p.Cys232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.8:c.849C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Cys283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.849C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.849C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Cys283="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Cys283="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.2:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.2:p.Cys220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.6:c.849C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Cys283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215532",
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.3:c.849C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Cys283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215532",
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.4:c.849C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Cys283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.849C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.849C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Cys283="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Cys283="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}