ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827239487
Gene: UROS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3752
ClinVar RCV Id:
RCV000003950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310965.1:p.Ala66Val
CA340119
NM_001324036.2:c.197C>T