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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:
PA105037
Gene: F8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10126
ClinVar RCV Id:
RCV000010839
RCV000851861
RCV001169905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000123.1:p.Arg2326Gln
CA255027
NM_000132.4:c.6977G>A