ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108140
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_000194.2:p.Leu490Pro
CA220503
NM_000203.5:c.1469T>C