ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164515
Gene: IDUA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Pro594Leu
CA2802406
NM_000203.5:c.1781C>T