{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1905805567",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.592C= (p.Pro198=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/76736111",
        "rs": 76736111
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 43102596,
          "referenceAllele": "C",
          "start": 43102595
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43102596C=",
        "CM000672.2:g.43102596C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 43598044,
          "referenceAllele": "C",
          "start": 43598043
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43598044C=",
        "CM000672.1:g.43598044C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 42918050,
          "referenceAllele": "C",
          "start": 42918049
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42918050C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30528,
          "referenceAllele": "C",
          "start": 30527
        }
      ],
      "hgvs": [
        "NG_007489.1:g.30528C=",
        "LRG_518:g.30528C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683278.1:c.513C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000684216.1:c.494C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.592C="
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.592C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Pro198="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Pro198="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000638465.1:c.534C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000640619.1:c.365C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 8610,
          "referenceAllele": "C",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 8611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.74-8611C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.74-8611C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 9502,
          "referenceAllele": "C",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 9503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.74-9503C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.74-9503C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076689920",
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.592C=",
        "LRG_518t2:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.592C=",
        "LRG_518t1:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076689920",
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.592C="
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.592C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Pro198="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Pro198="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076689920",
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.592C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}