{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2038192585",
  "communityStandardTitle": [
    "NC_000012.12:g.55966094C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2069391",
        "rs": 2069391
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 55966094,
          "referenceAllele": "C",
          "start": 55966093
        }
      ],
      "hgvs": [
        "NC_000012.12:g.55966094C=",
        "CM000674.2:g.55966094C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 56359878,
          "referenceAllele": "C",
          "start": 56359877
        }
      ],
      "hgvs": [
        "NC_000012.11:g.56359878C=",
        "CM000674.1:g.56359878C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 54646145,
          "referenceAllele": "C",
          "start": 54646144
        }
      ],
      "hgvs": [
        "NC_000012.10:g.54646145C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5619,
          "referenceAllele": "G",
          "start": 5618
        }
      ],
      "hgvs": [
        "NG_028086.1:g.5619G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4326,
          "referenceAllele": "C",
          "start": 4325
        }
      ],
      "hgvs": [
        "NG_034014.1:g.4326C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548493.5:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447374.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "endIntronDirection": "+",
          "endIntronOffset": 584,
          "referenceAllele": "G",
          "start": 32,
          "startIntronDirection": "+",
          "startIntronOffset": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548689.5:n.32+584G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548747.5:c.-83G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448828.1:n.-83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 4361,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 4362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000549233.2:c.86-4362G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448871.1:n.86-4362G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 64,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 64,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000549418.5:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446633.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "endIntronDirection": "+",
          "endIntronOffset": 584,
          "referenceAllele": "G",
          "start": 32,
          "startIntronDirection": "+",
          "startIntronOffset": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000549430.5:n.32+584G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000552882.5:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449690.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_006928.4:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "NP_008859.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_006719569.1:c.-83G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719632.1:n.-83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 64,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 64,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538685.1:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536987.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538686.1:c.-83G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536988.1:n.-83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538687.1:c.-83G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536989.1:n.-83G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "endIntronDirection": "-",
          "endIntronOffset": 31,
          "referenceAllele": "G",
          "start": 32,
          "startIntronDirection": "-",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_006928.5:c.-51-32G="
      ],
      "proteinEffect": {
        "hgvs": "NP_008859.1:n.-51-32G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727788"
    }
  ],
  "type": "nucleotide"
}