ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043813
Gene: IDUA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001350505.1:p.His53Pro
NM_001363576.1:c.158A>C