ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827239484
Gene: UROS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3751
ClinVar RCV Id:
RCV000003949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310965.1:p.Pro53Leu
CA252864
NM_001324036.2:c.158C>T