ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356993
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222992
ClinVar RCV Id:
RCV000208612
RCV000674701
RCV004020565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Val322Glu
CA356992
NM_000203.5:c.965T>A