ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101896
Gene: UROS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Pro248Gln
CA252876
NM_000375.3:c.743C>A