Canonical Allele Identifier: PA101631
Gene: UROD HGNC NCBI
ClinVar RCV:
RCV000000092
ClinVar Variation:
74
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000365.3:p.Leu195Phe
CA251379
NM_000374.5:c.583C>T