ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076695020
Gene: UROS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Val82Leu
CA378661123
NM_000375.3:c.244G>C