ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101806
Gene: UROS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003948
RCV000726590
ClinVar Variation:
3750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Cys73Arg
CA340118
NM_000375.3:c.217T>C