{{Rsnum
|rsid=121912696
|Chromosome=2
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SLC3A1
|position=44320424
|Gene_s=PREPL,SLC3A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=104614
|rsnum=121912696
|variant=0006
}}{{ClinVar
|rsid=121912696
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=44547563
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PREPL:9581; SLC3A1:6519
|GENE_NAME=PREPL; SLC3A1
|GENE_ID=9581; 6519
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.44547563C>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=104614.0006
|CLNSIG=5
|CLNCUI=C0010691
|CLNDBN=Cystinuria
|Disease=Cystinuria
|CLNACC=RCV000019748.26
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0010691:220100:214:85020001
}}