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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:
PA2828918718
Gene: FGB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16382
ClinVar RCV Id:
RCV000017804
RCV000852015
RCV002284174
RCV002287338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369689.1:p.Arg44Cys
CA126428
NM_001382760.1:c.130C>T