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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:
PA2827721893
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485602
ClinVar RCV Id:
RCV000570714
RCV000692706
RCV002491136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340160.1:p.Asn236Ser
CA398533958
NM_001353231.2:c.707A>G