ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827239602
Gene: UROS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310967.1:p.Ala104Val
CA344926
NM_001324038.2:c.311C>T