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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:
PA2825612956
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2565517
ClinVar RCV Id:
RCV003301925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120959.1:p.Lys1394Arg
CA369200536
NM_001127487.2:c.4181A>G