{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1942041",
  "communityStandardTitle": [
    "NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250336[alleleid]",
        "alleleId": 250336,
        "preferredName": "NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261768",
        "RCV": [
          "RCV000249020",
          "RCV000861850",
          "RCV001135808",
          "RCV001135809",
          "RCV001418739"
        ],
        "variationId": 261768
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-166773990-A-C",
        "id": "2-166773990-A-C",
        "variant": "2:166773990 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166773990A>C?assembly=hg19",
        "id": "chr2:g.166773990A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165917480A>C?assembly=hg38",
        "id": "chr2:g.165917480A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149325238",
        "rs": 149325238
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166773990-A-C?dataset=gnomad_r2_1",
        "id": "2-166773990-A-C",
        "variant": "2:166773990 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165917480-A-C?dataset=gnomad_r3",
        "id": "2-165917480-A-C",
        "variant": "2:165917480 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165917480-A-C?dataset=gnomad_r4",
        "id": "2-165917480-A-C",
        "variant": "2:165917480 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165917480,
          "referenceAllele": "A",
          "start": 165917479
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165917480A>C",
        "CM000664.2:g.165917480A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166773990,
          "referenceAllele": "A",
          "start": 166773989
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166773990A>C",
        "CM000664.1:g.166773990A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166482236,
          "referenceAllele": "A",
          "start": 166482235
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166482236A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41359,
          "referenceAllele": "T",
          "start": 41358
        }
      ],
      "hgvs": [
        "NG_030345.1:g.41359T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "T",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000243344.8:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243344.7:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000243344.7:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741172",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243344.8:c.1676T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024753.5:c.1676T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243344.7:p.Val559Gly"
          },
          "RefSeq": {
            "hgvs": "NP_079029.3:p.Val559Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000652557.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498617.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000498617.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679356.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506245.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000506245.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679671.1:n.1789T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679676.1:c.1565T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505492.1:p.Val522Gly",
        "hgvsWellDefined": "ENSP00000505492.1:p.Val522Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679799.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505208.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505208.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679840.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505248.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505248.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "T",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679931.1:c.*718T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505632.1:n.*718T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679967.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506607.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000506607.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "T",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680327.1:c.*718T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506639.1:n.*718T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "T",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680448.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505921.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505921.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680657.1:n.1787T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680690.1:c.*928T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506121.1:n.*928T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680888.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506276.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000506276.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "T",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680947.1:c.*948T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506496.1:n.*948T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681024.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506449.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000506449.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1843,
          "referenceAllele": "T",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681083.1:c.*1410T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506095.1:n.*1410T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681167.1:n.1550T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681483.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505499.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505499.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1877,
          "referenceAllele": "T",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681502.1:c.*1100T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505644.1:n.*1100T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681606.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505354.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505354.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681819.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505673.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000505673.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681952.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506400.1:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000506400.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000243344.7:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243344.7:p.Val559Gly",
        "hgvsWellDefined": "ENSP00000243344.7:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506425",
      "coordinates": [
        {
          "allele": "G",
          "end": 1809,
          "referenceAllele": "T",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "NM_024753.4:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079029.3:p.Val559Gly",
        "hgvsWellDefined": "NP_079029.3:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_006712761.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712824.1:p.Val559Gly",
        "hgvsWellDefined": "XP_006712824.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "T",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511870.1:c.1109T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510172.1:p.Val370Gly",
        "hgvsWellDefined": "XP_011510172.1:p.Val370Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511871.1:c.926T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510173.1:p.Val309Gly",
        "hgvsWellDefined": "XP_011510173.1:p.Val309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511872.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510174.1:p.Val559Gly",
        "hgvsWellDefined": "XP_011510174.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511871.3:c.926T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510173.1:p.Val309Gly",
        "hgvsWellDefined": "XP_011510173.1:p.Val309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511872.2:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510174.1:p.Val559Gly",
        "hgvsWellDefined": "XP_011510174.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004967.1:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860456.1:p.Val559Gly",
        "hgvsWellDefined": "XP_016860456.1:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4486,
          "referenceAllele": "T",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004968.2:c.1022T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860457.1:p.Val341Gly",
        "hgvsWellDefined": "XP_016860457.1:p.Val341Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1469,
          "referenceAllele": "T",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004969.1:c.677T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860458.1:p.Val226Gly",
        "hgvsWellDefined": "XP_016860458.1:p.Val226Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506425",
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "T",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "NM_024753.5:c.1676T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079029.3:p.Val559Gly",
        "hgvsWellDefined": "NP_079029.3:p.Val559Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243344.8:c.1676T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024753.5:c.1676T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243344.7:p.Val559Gly"
          },
          "RefSeq": {
            "hgvs": "NP_079029.3:p.Val559Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}