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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:
PA2827615143
Gene: TIA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651295
ClinVar RCV Id:
RCV000806619
RCV003141808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338443.1:p.Val284Met
CA1697404
NM_001351514.2:c.850G>A