{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1834022943",
  "communityStandardTitle": [
    "NM_000550.3(TYRP1):c.1145T= (p.Leu382=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776174514",
        "rs": 776174514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 12704589,
          "referenceAllele": "T",
          "start": 12704588
        }
      ],
      "hgvs": [
        "NC_000009.12:g.12704589T=",
        "CM000671.2:g.12704589T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 12704589,
          "referenceAllele": "T",
          "start": 12704588
        }
      ],
      "hgvs": [
        "NC_000009.11:g.12704589T=",
        "CM000671.1:g.12704589T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 12694589,
          "referenceAllele": "T",
          "start": 12694588
        }
      ],
      "hgvs": [
        "NC_000009.10:g.12694589T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16204,
          "referenceAllele": "T",
          "start": 16203
        }
      ],
      "hgvs": [
        "NG_011705.1:g.16204T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001914"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "ENST00000388918.10:c.1145T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373570.4:p.Leu382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388918.10:c.1145T="
          },
          "RefSeq": {
            "hgvs": "NM_000550.3:c.1145T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373570.4:p.Leu382="
          },
          "RefSeq": {
            "hgvs": "NP_000541.1:p.Leu382="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "ENST00000381136.2:c.275T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370528.2:p.Leu92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "T",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "ENST00000381142.3:n.382T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS273236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1274,
          "referenceAllele": "T",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "ENST00000388918.9:c.1145T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373570.4:p.Leu382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190211",
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "NM_000550.2:c.1145T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000541.1:p.Leu382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 3962,
          "referenceAllele": "A",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049761",
      "geneNCBI_id": 101929467,
      "geneSymbol": "LURAP1L-AS1",
      "hgvs": [
        "NR_125775.1:n.317-3963A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "XR_001746372.2:n.1129T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190211",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012450",
      "geneNCBI_id": 7306,
      "geneSymbol": "TYRP1",
      "hgvs": [
        "NM_000550.3:c.1145T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000541.1:p.Leu382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388918.10:c.1145T="
          },
          "RefSeq": {
            "hgvs": "NM_000550.3:c.1145T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373570.4:p.Leu382="
          },
          "RefSeq": {
            "hgvs": "NP_000541.1:p.Leu382="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}