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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:
PA2573217676
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1417994
ClinVar RCV Id:
RCV001930800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001449.3:p.Ile852Thr
CA166176121
NM_001458.5:c.2555T>C