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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:
PA916012821
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221213
ClinVar RCV Id:
RCV000205196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006114.1:p.Gly312Asp