{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392087809",
  "communityStandardTitle": [
    "NM_024956.4(TMEM62):c.1306C>T (p.Leu436Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2242558[alleleid]",
        "alleleId": 2242558,
        "preferredName": "NM_024956.4(TMEM62):c.1306C>T (p.Leu436Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2251412",
        "RCV": [
          "RCV004113626"
        ],
        "variationId": 2251412
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43461800C>T?assembly=hg19",
        "id": "chr15:g.43461800C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43169602C>T?assembly=hg38",
        "id": "chr15:g.43169602C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768306404",
        "rs": 768306404
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43169602-C-T?dataset=gnomad_r4",
        "id": "15-43169602-C-T",
        "variant": "15:43169602 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43169602,
          "referenceAllele": "C",
          "start": 43169601
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43169602C>T",
        "CM000677.2:g.43169602C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43461800,
          "referenceAllele": "C",
          "start": 43461799
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43461800C>T",
        "CM000677.1:g.43461800C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 41249092,
          "referenceAllele": "C",
          "start": 41249091
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41249092C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000260403.7:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260403.2:p.Leu436Phe",
        "hgvsWellDefined": "ENSP00000260403.2:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260403.7:c.1306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024956.4:c.1306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260403.2:p.Leu436Phe"
          },
          "RefSeq": {
            "hgvs": "NP_079232.3:p.Leu436Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000260403.6:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260403.2:p.Leu436Phe",
        "hgvsWellDefined": "ENSP00000260403.2:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000563859.5:n.411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000564494.1:c.1101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000566308.1:n.482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "ENST00000569369.1:n.149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 10243,
          "referenceAllele": "G",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 10242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003381",
      "geneNCBI_id": 2038,
      "geneSymbol": "EPB42",
      "hgvs": [
        "ENST00000570199.1:n.94+10243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580457582",
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_024956.3:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079232.3:p.Leu436Phe",
        "hgvsWellDefined": "NP_079232.3:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_005254682.3:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254739.1:p.Leu304Phe",
        "hgvsWellDefined": "XP_005254739.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_005254683.3:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254740.1:p.Leu304Phe",
        "hgvsWellDefined": "XP_005254740.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_005254684.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254741.1:p.Leu231Phe",
        "hgvsWellDefined": "XP_005254741.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_011522071.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520373.1:p.Leu306Phe",
        "hgvsWellDefined": "XP_011520373.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_011522072.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520374.1:p.Leu304Phe",
        "hgvsWellDefined": "XP_011520374.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_011522073.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520375.1:p.Leu228Phe",
        "hgvsWellDefined": "XP_011520375.1:p.Leu228Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_011522074.1:c.658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520376.1:p.Leu220Phe",
        "hgvsWellDefined": "XP_011520376.1:p.Leu220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089231"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396458",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347004.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333933.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333933.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396482",
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347005.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333934.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333934.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396506",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347006.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333935.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333935.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396530",
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347007.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333936.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333936.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396554",
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347008.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333937.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333937.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347009.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333938.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333938.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396602",
      "coordinates": [
        {
          "allele": "T",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347010.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333939.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333939.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396626",
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347011.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333940.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333940.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347012.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333941.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333941.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396674",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347013.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333942.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333942.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396698",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347014.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333943.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333943.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347015.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333944.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333944.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396744",
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347016.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333945.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333945.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347017.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333946.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333946.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396792",
      "coordinates": [
        {
          "allele": "T",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347018.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333947.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333947.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396814",
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347019.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333948.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333948.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396836",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347020.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333949.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333949.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396858",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347021.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333950.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333950.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396880",
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347023.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333952.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333952.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396902",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347024.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333953.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333953.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347025.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333954.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333954.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396946",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347026.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333955.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333955.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396968",
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347027.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333956.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333956.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396990",
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347028.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333957.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333957.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397010",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347029.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333958.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333958.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397028",
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347030.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333959.1:p.Leu217Phe",
        "hgvsWellDefined": "NP_001333959.1:p.Leu217Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347031.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333960.1:p.Leu347Phe",
        "hgvsWellDefined": "NP_001333960.1:p.Leu347Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347032.1:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333961.1:p.Leu436Phe",
        "hgvsWellDefined": "NP_001333961.1:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397113",
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347033.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333962.1:p.Leu347Phe",
        "hgvsWellDefined": "NP_001333962.1:p.Leu347Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397135",
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347034.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333963.1:p.Leu228Phe",
        "hgvsWellDefined": "NP_001333963.1:p.Leu228Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144541.1:n.1335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144542.1:n.1506C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144543.1:n.1538C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144544.1:n.1460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_011522074.2:c.658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520376.1:p.Leu220Phe",
        "hgvsWellDefined": "XP_011520376.1:p.Leu220Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "XM_024450071.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305839.1:p.Leu217Phe",
        "hgvsWellDefined": "XP_024305839.1:p.Leu217Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580457582",
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_024956.4:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079232.3:p.Leu436Phe",
        "hgvsWellDefined": "NP_079232.3:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260403.7:c.1306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024956.4:c.1306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260403.2:p.Leu436Phe"
          },
          "RefSeq": {
            "hgvs": "NP_079232.3:p.Leu436Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396482",
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347005.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333934.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333934.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396506",
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347006.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333935.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333935.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396530",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347007.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333936.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333936.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396602",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347010.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333939.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333939.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396626",
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347011.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333940.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333940.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347012.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333941.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333941.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396674",
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347013.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333942.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333942.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347015.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333944.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333944.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396744",
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347016.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333945.1:p.Leu306Phe",
        "hgvsWellDefined": "NP_001333945.1:p.Leu306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347017.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333946.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333946.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396792",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347018.2:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333947.1:p.Leu304Phe",
        "hgvsWellDefined": "NP_001333947.1:p.Leu304Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396836",
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347020.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333949.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333949.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396858",
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347021.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333950.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333950.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396880",
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347023.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333952.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333952.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719029"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396946",
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347026.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333955.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333955.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396968",
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347027.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333956.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333956.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827396990",
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347028.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333957.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333957.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397010",
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347029.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333958.1:p.Leu231Phe",
        "hgvsWellDefined": "NP_001333958.1:p.Leu231Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347031.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333960.1:p.Leu347Phe",
        "hgvsWellDefined": "NP_001333960.1:p.Leu347Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347032.2:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333961.1:p.Leu436Phe",
        "hgvsWellDefined": "NP_001333961.1:p.Leu436Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397113",
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347033.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333962.1:p.Leu347Phe",
        "hgvsWellDefined": "NP_001333962.1:p.Leu347Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827397135",
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NM_001347034.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333963.1:p.Leu228Phe",
        "hgvsWellDefined": "NP_001333963.1:p.Leu228Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144542.2:n.1444C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144543.2:n.1476C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NR_144544.2:n.1398C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731168"
    }
  ],
  "type": "nucleotide"
}