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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:
PA2827925492
Gene: THRB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12564
ClinVar RCV Id:
RCV000986043
RCV000852377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341637.1:p.Val458Ala
CA122505
NM_001354708.2:c.1373T>C