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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:
PA2828918880
Gene: FGB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982341
ClinVar RCV Id:
RCV002766704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369691.1:p.Ser42Thr
CA358508247
NM_001382762.1:c.125G>C