ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828097231
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1683230
ClinVar RCV Id:
RCV002240078
RCV003134402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.Ala187Val
CA2802126
NM_001363576.1:c.560C>T