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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:
PA2825614352
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040928
ClinVar RCV Id:
RCV001344665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120959.1:p.Ile2053Thr
CA369211922
NM_001127487.2:c.6158T>C