ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101496
Gene: UROD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000365.3:p.Glu167Lys
NM_000374.5:c.499G>A