{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390849580",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.513C>G (p.Phe171Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94849062G>C?assembly=hg19",
        "id": "chr14:g.94849062G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94382725G>C?assembly=hg38",
        "id": "chr14:g.94382725G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94382725,
          "referenceAllele": "G",
          "start": 94382724
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94382725G>C",
        "CM000676.2:g.94382725G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94849062,
          "referenceAllele": "G",
          "start": 94849061
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94849062G>C",
        "CM000676.1:g.94849062G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 93918815,
          "referenceAllele": "G",
          "start": 93918814
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93918815G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12968,
          "referenceAllele": "C",
          "start": 12967
        }
      ],
      "hgvs": [
        "NG_008290.1:g.12968C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000376802.4:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.513C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.513C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Phe171Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Phe171Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "referenceAllele": "C",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000490054.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000348068.4:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000376802.4:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000376803.4:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000386094.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000385960.4:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000408474.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000390299.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000416066.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000416354.3:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:p.Phe171Leu",
        "hgvsWellDefined": "ENSP00000451525.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000554720.1:c.255C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450561.1:p.Phe85Leu",
        "hgvsWellDefined": "ENSP00000450561.1:p.Phe85Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Phe171Leu",
        "hgvsWellDefined": "NP_000286.3:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001002235.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001002236.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121172.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121173.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121174.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121175.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121176.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121177.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121178.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121179.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Phe171Leu",
        "hgvsWellDefined": "XP_016876859.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Phe171Leu",
        "hgvsWellDefined": "NP_000286.3:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.513C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.513C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Phe171Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Phe171Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001002235.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001002236.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121172.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121173.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121174.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121175.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121176.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121177.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121178.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.513C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Phe171Leu",
        "hgvsWellDefined": "NP_001121179.1:p.Phe171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}