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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:
PA1139737665
Gene: FLCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944564
ClinVar RCV Id:
RCV001214989
RCV002375180
RCV002462832
RCV003393892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340158.1:p.Val442Ala
CA8416081
NM_001353229.2:c.1325T>C