ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108129
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11927
ClinVar RCV Id:
RCV000012702
RCV000012703
RCV001248726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Leu346Arg
CA256128
NM_000203.5:c.1037T>G