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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:
PA2826033211
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457353
ClinVar RCV Id:
RCV000548295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160022.1:p.Gly246Trp
CA414519805
NM_001166550.4:c.736G>T