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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:
PA2827719916
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649767
ClinVar RCV Id:
RCV000804774
RCV001025105
RCV001766672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340159.1:p.Cys21Tyr
CA288320819
NM_001353230.2:c.62G>A