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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108268
Gene: IDUA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11916
ClinVar RCV Id:
RCV000012691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000194.2:p.Thr366Pro
CA256117
NM_000203.5:c.1096A>C