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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:
PA2827925385
Gene: THRB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12566
ClinVar RCV Id:
RCV000013394
RCV000760093
RCV002476959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341637.1:p.Arg243Gln
CA122509
NM_001354708.2:c.728G>A