{{Rsnum
|rsid=5030854
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PAH
|position=102843769
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PAH
}}{{omim
|id=612349
|rsnum=5030854
|variant=0052
}}{{ClinVar
|rsid=5030854
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=103237547
|CHROM=12
|dbSNPBuildID=113
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=PAH:5053
|GENE_NAME=PAH
|GENE_ID=5053
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.103237547G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612349.0052
|CLNSIG=5
|CLNCUI=C0031485
|CLNDBN=Phenylketonuria
|Disease=Phenylketonuria
|CLNACC=RCV000000658.1
|Tags=RV;PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1504:C0031485:261600:2209:716:154735006
}}