{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2333586107",
  "communityStandardTitle": [
    "NM_021175.4(HAMP):c.166C= (p.Arg56=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894695",
        "rs": 104894695
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 35284953,
          "referenceAllele": "C",
          "start": 35284952
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35284953C=",
        "CM000681.2:g.35284953C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 35775856,
          "referenceAllele": "C",
          "start": 35775855
        }
      ],
      "hgvs": [
        "NC_000019.9:g.35775856C=",
        "CM000681.1:g.35775856C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 40467696,
          "referenceAllele": "C",
          "start": 40467695
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40467696C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7447,
          "referenceAllele": "C",
          "start": 7446
        }
      ],
      "hgvs": [
        "NG_011563.1:g.7447C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7447,
          "referenceAllele": "C",
          "start": 7446
        }
      ],
      "hgvs": [
        "NG_011563.2:g.7447C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "ENST00000222304.5:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222304.2:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222304.5:c.166C="
          },
          "RefSeq": {
            "hgvs": "NM_021175.4:c.166C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222304.2:p.Arg56="
          },
          "RefSeq": {
            "hgvs": "NP_066998.1:p.Arg56="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "ENST00000222304.3:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222304.2:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2437,
          "referenceAllele": "C",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "ENST00000593580.1:n.2437C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "ENST00000598398.5:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471894.1:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868773",
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "C",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "NM_021175.2:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066998.1:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868773",
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "NM_021175.3:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066998.1:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868773",
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015598",
      "geneNCBI_id": 57817,
      "geneSymbol": "HAMP",
      "hgvs": [
        "NM_021175.4:c.166C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066998.1:p.Arg56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222304.5:c.166C="
          },
          "RefSeq": {
            "hgvs": "NM_021175.4:c.166C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222304.2:p.Arg56="
          },
          "RefSeq": {
            "hgvs": "NP_066998.1:p.Arg56="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}