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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:
PA2580255875
Gene: CFB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1940636
ClinVar RCV Id:
RCV002639434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001701.2:p.Pro33Ala
CA3727951
NM_001710.6:c.97C>G