{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406494993",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2883968[alleleid]",
        "alleleId": 2883968,
        "preferredName": "NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2732525",
        "RCV": [
          "RCV003593251"
        ],
        "variationId": 2732525
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47258972C>G?assembly=hg19",
        "id": "chr19:g.47258972C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46755715C>G?assembly=hg38",
        "id": "chr19:g.46755715C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1293404628",
        "rs": 1293404628
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46755715,
          "referenceAllele": "C",
          "start": 46755714
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46755715C>G",
        "CM000681.2:g.46755715C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47258972,
          "referenceAllele": "C",
          "start": 47258971
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47258972C>G",
        "CM000681.1:g.47258972C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51950812,
          "referenceAllele": "C",
          "start": 51950811
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51950812C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14670,
          "referenceAllele": "C",
          "start": 14669
        }
      ],
      "hgvs": [
        "NG_008898.2:g.14670C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000326570.4:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.265C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.265C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Pro89Ala"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Pro89Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000326570.4:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000375776.2:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000593800.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471209.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000471209.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000593902.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470901.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000470901.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000594467.5:c.-165C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471971.1:n.-165C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000596974.5:n.491C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 6117,
          "referenceAllele": "C",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 6118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-6118C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600005.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470335.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000470335.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600227.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468825.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000468825.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7050,
          "referenceAllele": "C",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7050C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000601299.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470103.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000470103.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000602181.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472981.1:p.Pro89Ala",
        "hgvsWellDefined": "ENSP00000472981.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398077"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388110",
      "coordinates": [
        {
          "allele": "G",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Pro89Ala",
        "hgvsWellDefined": "NP_001034974.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741985231",
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Pro89Ala",
        "hgvsWellDefined": "NP_077277.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259304.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259305.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259306.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259307.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525603.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525604.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525605.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525606.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525607.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525608.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525609.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259304.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "referenceAllele": "C",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259305.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_005259306.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_011525608.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_016882786.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Pro89Ala",
        "hgvsWellDefined": "XP_024307475.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388110",
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Pro89Ala",
        "hgvsWellDefined": "NP_001034974.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741985231",
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.265C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Pro89Ala",
        "hgvsWellDefined": "NP_077277.1:p.Pro89Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.265C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.265C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Pro89Ala"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Pro89Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}