{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10634765",
  "communityStandardTitle": [
    "NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320394[alleleid]",
        "alleleId": 320394,
        "preferredName": "NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/312948",
        "RCV": [
          "RCV000281017",
          "RCV000377989"
        ],
        "variationId": 312948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24709524A>G?assembly=hg19",
        "id": "chr14:g.24709524A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24240318A>G?assembly=hg38",
        "id": "chr14:g.24240318A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886050430",
        "rs": 886050430
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24240318-A-G?dataset=gnomad_r4",
        "id": "14-24240318-A-G",
        "variant": "14:24240318 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 24240318,
          "referenceAllele": "A",
          "start": 24240317
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24240318A>G",
        "CM000676.2:g.24240318A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 24709524,
          "referenceAllele": "A",
          "start": 24709523
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24709524A>G",
        "CM000676.1:g.24709524A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 23779364,
          "referenceAllele": "A",
          "start": 23779363
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23779364A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7357,
          "referenceAllele": "T",
          "start": 7356
        }
      ],
      "hgvs": [
        "NG_016650.1:g.7357T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12902,
          "referenceAllele": "A",
          "start": 12901
        }
      ],
      "hgvs": [
        "NG_054634.1:g.12902A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "referenceAllele": "T",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.2:n.1465T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.3:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.3:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "T",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699682.1:n.1552T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "T",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699683.1:n.1602T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1468,
          "referenceAllele": "T",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699684.1:c.*755T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514523.1:n.*755T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "T",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699685.1:n.1366T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "T",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699686.1:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514524.1:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "T",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699687.1:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514525.1:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "T",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699688.1:n.1362T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "T",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699689.1:n.1718T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1915,
          "referenceAllele": "T",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699690.1:n.1915T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699691.1:n.2059T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13,
          "referenceAllele": "T",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699692.1:n.13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1491,
          "referenceAllele": "T",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699693.1:n.1491T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "referenceAllele": "T",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699694.1:n.1821T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "T",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699695.1:c.*446T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514526.1:n.*446T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "referenceAllele": "T",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699696.1:n.1465T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "T",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699697.1:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514527.1:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699698.1:n.995T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699699.1:n.1486T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1609,
          "referenceAllele": "T",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699700.1:n.1609T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699701.1:c.*542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514528.1:n.*542T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.12:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.1074T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.1074T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Asp358="
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Asp358="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "T",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000646753.1:c.969T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494065.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.11:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1493,
          "referenceAllele": "T",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000399423.8:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382350.4:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "T",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.1:n.281T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "T",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558566.1:c.*534T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453025.1:n.*534T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "referenceAllele": "T",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559969.5:c.920T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69,
          "referenceAllele": "T",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000560019.5:c.69T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453113.1:p.Asp23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1211,
          "referenceAllele": "T",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000626689.2:c.*446T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486681.1:n.*446T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535818",
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.1:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "T",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.2:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267528.2:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267585.1:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "T",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267529.2:c.969T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267586.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535818",
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.2:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102140",
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.1:c.969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "T",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.3:c.*97T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:n.*97T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.2:c.*542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:n.*542T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "T",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021216.2:c.432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876705.1:p.Asp144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021217.1:c.432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876706.1:p.Asp144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535818",
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.3:c.1074T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Asp358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.1074T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.1074T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Asp358="
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Asp358="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102140",
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.2:c.969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Asp323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690732"
    }
  ],
  "type": "nucleotide"
}