ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164477
Gene: IDUA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Asp243Asn
CA355962147
NM_000203.5:c.727G>A