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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:
PA2827721347
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409394
ClinVar RCV Id:
RCV000456284
RCV000574639
RCV001574874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340160.1:p.Thr22Met
CA8416529
NM_001353231.2:c.65C>T