ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828097209
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502243
ClinVar RCV Id:
RCV000595653
RCV000668685
RCV001248917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Leu176Pro
CA2802119
NM_001363576.1:c.527T>C