{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5312962",
  "communityStandardTitle": [
    "NM_000787.4(DBH):c.165G>A (p.Pro55=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3213769",
        "active": true,
        "id": "COSM3213769"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=723420[alleleid]",
        "alleleId": 723420,
        "preferredName": "NM_000787.4(DBH):c.165G>A (p.Pro55=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/718866",
        "RCV": [
          "RCV001169430"
        ],
        "variationId": 718866
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-136501658-G-A",
        "id": "9-136501658-G-A",
        "variant": "9:136501658 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136501658G>A?assembly=hg19",
        "id": "chr9:g.136501658G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133636536G>A?assembly=hg38",
        "id": "chr9:g.133636536G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139591190",
        "rs": 139591190
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136501658-G-A?dataset=gnomad_r2_1",
        "id": "9-136501658-G-A",
        "variant": "9:136501658 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133636536-G-A?dataset=gnomad_r3",
        "id": "9-133636536-G-A",
        "variant": "9:133636536 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133636536-G-A?dataset=gnomad_r4",
        "id": "9-133636536-G-A",
        "variant": "9:133636536 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133636536,
          "referenceAllele": "G",
          "start": 133636535
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133636536G>A",
        "CM000671.2:g.133636536G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 136501658,
          "referenceAllele": "G",
          "start": 136501657
        }
      ],
      "hgvs": [
        "NC_000009.11:g.136501658G>A",
        "CM000671.1:g.136501658G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135491479,
          "referenceAllele": "G",
          "start": 135491478
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135491479G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5174,
          "referenceAllele": "G",
          "start": 5173
        }
      ],
      "hgvs": [
        "NG_008645.1:g.5174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.3:c.159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.3:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.8:c.165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Pro55="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Pro55="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.2:c.123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.2:p.Pro41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "referenceAllele": "G",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.6:c.165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215205",
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.3:c.165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215205",
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.4:c.165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Pro55="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Pro55="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}