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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:
PA2580262776
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2100994
ClinVar RCV Id:
RCV003033633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001449.3:p.Ser2036Ala
CA369211248
NM_001458.5:c.6106T>G