ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108110
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222995
ClinVar RCV Id:
RCV000208593
RCV000592964
RCV000672514
RCV002500671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Leu218Pro
CA356986
NM_000203.5:c.653T>C