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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:
PA2826033183
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2862194
ClinVar RCV Id:
RCV003623428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160022.1:p.Val221Phe
CA414520247
NM_001166550.4:c.661G>T