Canonical Allele Identifier: PA2827239491
Gene: UROS HGNC NCBI

Linked Data

ClinVar Variation Id: 3760
ClinVar RCV Id: RCV000003958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310965.1:p.Glu81Asp
CA252870
NM_001324036.2:c.243A>T
CA378661128
NM_001324036.2:c.243A>C