Canonical Allele Identifier: PA891866145
Gene: UROS HGNC NCBI
ClinVar RCV:
RCV000003949
ClinVar Variation:
3751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310968.1:p.Pro53Leu
CA252864
NM_001324039.2:c.158C>T