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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:
PA106640
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92617
ClinVar RCV Id:
RCV000177016
RCV000790731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000193.1:p.Ala85Thr
CA331781
NM_000202.8:c.253G>A