{{Rsnum
|rsid=121912855
|Chromosome=3
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL7A1
|position=48575218
|Gene_s=COL7A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=121912855
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48612651
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=COL7A1:1294
|GENE_NAME=COL7A1
|GENE_ID=1294
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.48612651G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120120.0041
|CLNSIG=5
|CLNCUI=C2673612; C2673612
|CLNDBN=Epidermolysis bullosa dystrophica inversa, autosomal recessive
|Disease=Epidermolysis bullosa dystrophica inversa
|CLNACC=RCV000019015.26
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C2673612
}}