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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:
PA916039296
Gene: THRB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12561
ClinVar RCV Id:
RCV000013389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341642.1:p.Phe459Cys
CA122499
NM_001354713.2:c.1376T>G