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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:
PA109313
Gene: F9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10590
ClinVar RCV Id:
RCV000011336
RCV001810848
RCV002512970
RCV003407315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000124.1:p.Arg226Trp
CA255350
NM_000133.4:c.676C>T