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: PA2827239471

Gene: UROS HGNC NCBI

Linked Data

ClinVar Variation Id: 3755

ClinVar RCV Id: RCV000003953 RCV001851632

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310965.1:p.Leu4Phe	CA252867 NM_001324036.2:c.10C>T