{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1882776218",
  "communityStandardTitle": [
    "NM_000787.4(DBH):c.631G= (p.Ala211=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5320",
        "rs": 5320
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133642351,
          "referenceAllele": "G",
          "start": 133642350
        }
      ],
      "hgvs": [
        "NC_000009.12:g.133642351G=",
        "CM000671.2:g.133642351G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136507473,
          "referenceAllele": "G",
          "start": 136507472
        }
      ],
      "hgvs": [
        "NC_000009.11:g.136507473G=",
        "CM000671.1:g.136507473G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135497294,
          "referenceAllele": "G",
          "start": 135497293
        }
      ],
      "hgvs": [
        "NC_000009.10:g.135497294G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10989,
          "referenceAllele": "G",
          "start": 10988
        }
      ],
      "hgvs": [
        "NG_008645.1:g.10989G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.3:c.478G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.3:p.Ala160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.8:c.631G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Ala211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.631G="
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.631G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Ala211="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Ala211="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000263611.2:c.442G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263611.2:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "ENST00000393056.6:c.631G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376776.2:p.Ala211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215475",
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.3:c.631G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Ala211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825215475",
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NM_000787.4:c.631G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000778.3:p.Ala211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393056.8:c.631G="
          },
          "RefSeq": {
            "hgvs": "NM_000787.4:c.631G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376776.2:p.Ala211="
          },
          "RefSeq": {
            "hgvs": "NP_000778.3:p.Ala211="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}