ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097694
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100723
ClinVar RCV Id:
RCV000087088
RCV002515779
RCV003129777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Tyr493Cys
CA267584
NM_001363576.1:c.1478A>G