ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101470
Gene: UROD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000094
ClinVar Variation:
76
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000365.3:p.Arg332His
CA251381
NM_000374.5:c.995G>A