ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828097501
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11919
ClinVar RCV Id:
RCV000012694
RCV000173657
RCV000790664
RCV001204340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Leu358Pro
CA220503
NM_001363576.1:c.1073T>C