ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828097581
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689239
ClinVar RCV Id:
RCV003487921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350505.1:p.His407Tyr
CA2802307
NM_001363576.1:c.1219C>T