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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:
PA2580108630
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1771447
ClinVar RCV Id:
RCV002396581
RCV003774299
RCV003479424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000193.1:p.Tyr463Cys
CA414518200
NM_000202.8:c.1388A>G