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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:
PA110177
Gene: F9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10627
ClinVar RCV Id:
RCV000011371
RCV001382695
RCV001810850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000124.1:p.Ile443Thr
CA255420
NM_000133.4:c.1328T>C