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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:
PA2826947136
Gene: F9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10623
ClinVar RCV Id:
RCV000011369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001300842.1:p.Ala398Val
CA255416
NM_001313913.2:c.1193C>T