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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:
PA2829015713
Gene: TYK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2176450
ClinVar RCV Id:
RCV002582393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372127.1:p.Arg294Gln
CA9193587
NM_001385198.1:c.881G>A