ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063916337
Gene: UROD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000365.3:p.Leu195Val
CA340118386
NM_000374.5:c.583C>G