ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668794
Gene: UROD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001098965
ClinVar Variation:
875265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000365.3:p.Arg193His
CA21795904
NM_000374.5:c.578G>A