ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109263
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2152419
ClinVar RCV Id:
RCV003061664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Arg531Gln
CA91170772
NM_000203.5:c.1592G>A