ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164487
Gene: IDUA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Ser347Thr
CA91169040
NM_000203.5:c.1040G>C