ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417246
Gene: IDUA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000194.2:p.His185Pro
NM_000203.5:c.554A>C