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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:
PA2830382402
Gene: TPO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374178
ClinVar RCV Id:
RCV000415396
RCV001196337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_783650.1:p.His520Tyr
CA16043375
NM_175719.4:c.1558C>T