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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:
PA915989941
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10494
ClinVar RCV Id:
RCV000011240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160022.1:p.Lys45Arg
CA255275
NM_001166550.4:c.134A>G