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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:
PA2830383382
Gene: TPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4043
ClinVar RCV Id:
RCV000004258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_783653.1:p.Ile274Phe
CA116629
NM_175722.3:c.820A>T