ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101942
Gene: UROS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3754
ClinVar RCV Id:
RCV000003952
RCV001851631
RCV003407267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Thr228Met
CA252866
NM_000375.3:c.683C>T