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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:
PA916035914
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253246
ClinVar RCV Id:
RCV000239663
RCV000493637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340158.1:p.Leu436Pro
CA10586257
NM_001353229.2:c.1307T>C