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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:
PA2830283943
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2578497
ClinVar RCV Id:
RCV003326273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653207.1:p.Thr22Lys
CA398535399
NM_144606.7:c.65C>A