ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109314
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984723
ClinVar RCV Id:
RCV002775636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Ser575Phe
CA355965288
NM_000203.5:c.1724C>T