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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:
PA645466487
Gene: FBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419848
ClinVar RCV Id:
RCV000482146
RCV001261613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121100.1:p.Cys39_Thr40dup
CA16618871
NM_001127628.2:c.114_119dup