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: PA2827239563

Gene: UROS HGNC NCBI

Linked Data

ClinVar Variation Id: 3766

ClinVar RCV Id: RCV000003964 RCV001851635

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310966.1:p.Gly225Ser	CA340125 NM_001324037.2:c.673G>A