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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:
PA106383
Gene: F8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10297
ClinVar RCV Id:
RCV000011010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000123.1:p.Gly1967Asp
CA255188
NM_000132.4:c.5900G>A