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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:
PA2825051058
Gene: F8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3091494
ClinVar RCV Id:
RCV004378353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000123.1:p.Pro1999Ala
CA414905420
NM_000132.4:c.5995C>G