{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397438141",
  "communityStandardTitle": [
    "NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4483710",
        "active": true,
        "id": "COSM4483710"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535379[alleleid]",
        "alleleId": 535379,
        "preferredName": "NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545113",
        "RCV": [
          "RCV000656367",
          "RCV000656369"
        ],
        "variationId": 545113
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89831348G>A?assembly=hg19",
        "id": "chr16:g.89831348G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89764940G>A?assembly=hg38",
        "id": "chr16:g.89764940G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1216426444",
        "rs": 1216426444
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89764940,
          "referenceAllele": "G",
          "start": 89764939
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89764940G>A",
        "CM000678.2:g.89764940G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89831348,
          "referenceAllele": "G",
          "start": 89831347
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89831348G>A",
        "CM000678.1:g.89831348G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88358849,
          "referenceAllele": "G",
          "start": 88358848
        }
      ],
      "hgvs": [
        "NC_000016.8:g.88358849G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56718,
          "referenceAllele": "C",
          "start": 56717
        }
      ],
      "hgvs": [
        "NG_011706.1:g.56718C>T",
        "LRG_495:g.56718C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001915"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000561667.2:c.*1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512522.1:n.*1222C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000564475.6:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454977.2:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000454977.2:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000567510.2:c.1427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455969.1:n.1427C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "referenceAllele": "C",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000568369.6:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456829.1:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000456829.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2689,
          "referenceAllele": "C",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696274.1:n.2689C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2900,
          "referenceAllele": "C",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696275.1:c.*1963C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512517.1:n.*1963C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696276.1:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696286.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512523.1:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000512523.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696287.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512524.1:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000512524.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000696291.1:c.*2448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512530.1:n.*2448C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000389301.8:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373952.3:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000373952.3:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389301.8:c.2728C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000135.4:c.2728C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373952.3:p.Leu910Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000126.2:p.Leu910Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000305699.15:n.100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "C",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000389301.7:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373952.3:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000373952.3:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000561660.1:c.105C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000563318.1:c.134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8,
          "referenceAllele": "C",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000563510.5:c.8C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "referenceAllele": "C",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000567988.5:c.65C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "C",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "ENST00000568369.5:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456829.1:p.Leu910Phe",
        "hgvsWellDefined": "ENSP00000456829.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825674",
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "referenceAllele": "C",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_000135.2:c.2728C>T",
        "LRG_495t1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000126.2:p.Leu910Phe",
        "hgvsWellDefined": "NP_000126.2:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015001",
      "coordinates": [
        {
          "allele": "T",
          "end": 2770,
          "referenceAllele": "C",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_001286167.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273096.1:p.Leu910Phe",
        "hgvsWellDefined": "NP_001273096.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_005256294.3:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256351.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_005256351.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522945.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521247.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_011521247.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522946.1:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521248.1:p.Leu569Phe",
        "hgvsWellDefined": "XP_011521248.1:p.Leu569Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "referenceAllele": "C",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522947.1:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521249.1:p.Leu569Phe",
        "hgvsWellDefined": "XP_011521249.1:p.Leu569Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933244.1:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933245.1:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933246.1:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825674",
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_000135.3:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000126.2:p.Leu910Phe",
        "hgvsWellDefined": "NP_000126.2:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015001",
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_001286167.2:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273096.1:p.Leu910Phe",
        "hgvsWellDefined": "NP_001273096.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_005256294.4:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256351.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_005256351.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522945.2:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521247.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_011521247.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2878,
          "referenceAllele": "C",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522946.3:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521248.1:p.Leu569Phe",
        "hgvsWellDefined": "XP_011521248.1:p.Leu569Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2689,
          "referenceAllele": "C",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_011522947.2:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521249.1:p.Leu569Phe",
        "hgvsWellDefined": "XP_011521249.1:p.Leu569Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_017023044.2:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878533.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_016878533.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_017023045.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878534.1:p.Leu910Phe",
        "hgvsWellDefined": "XP_016878534.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "referenceAllele": "C",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XM_024450189.1:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305957.1:p.Leu569Phe",
        "hgvsWellDefined": "XP_024305957.1:p.Leu569Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_001751866.1:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933244.2:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933245.2:n.2771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2900,
          "referenceAllele": "C",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "XR_933247.2:n.2900C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825674",
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_000135.4:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000126.2:p.Leu910Phe",
        "hgvsWellDefined": "NP_000126.2:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389301.8:c.2728C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000135.4:c.2728C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373952.3:p.Leu910Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000126.2:p.Leu910Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015001",
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "C",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NM_001286167.3:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273096.1:p.Leu910Phe",
        "hgvsWellDefined": "NP_001273096.1:p.Leu910Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682155"
    }
  ],
  "type": "nucleotide"
}