Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA891866140

Gene: UROS HGNC NCBI

Linked Data

ClinVar Variation Id: 3754

ClinVar RCV Id: RCV000003952 RCV001851631 RCV003407267

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310965.1:p.Thr255Met	CA252866 NM_001324036.2:c.764C>T