Allele Registry

Canonical Allele Identifier: PA2827239598

Gene: UROS HGNC NCBI

ClinVar Allele:

18799

ClinVar RCV:

RCV000003958

ClinVar Variation:

3760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310967.1:p.Glu81Asp	CA252870 NM_001324038.2:c.243A>T CA378661128 NM_001324038.2:c.243A>C