Allele Registry

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.

Canonical Allele Identifier: PA916035919

Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 186952

ClinVar RCV Id: RCV000166621 RCV000635548 RCV001558726 RCV003416042

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340158.1:p.Gln443Arg	CA196326 NM_001353229.2:c.1328A>G