ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097393
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556156
ClinVar RCV Id:
RCV000672115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Thr285_His293del
CA658823291
NM_001363576.1:c.853_879del