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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:
PA2825081492
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1521407
ClinVar RCV Id:
RCV002027870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000193.1:p.Phe116Val
CA414526142
NM_000202.8:c.346T>G