ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101609
Gene: UROD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000365.3:p.Ile334Thr
CA340120847
NM_000374.5:c.1001T>C