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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:
PA2825613226
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
934479
ClinVar RCV Id:
RCV001202879
RCV002339506
RCV003145372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120959.1:p.Arg1526His
CA4475379
NM_001127487.2:c.4577G>A