×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827721176
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566314
ClinVar RCV Id:
RCV003306493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340159.1:p.Arg527Leu
CA398530444
NM_001353230.2:c.1580G>T