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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:
PA2825614234
Gene: FLNC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
539428
ClinVar RCV Id:
RCV000649162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120959.1:p.Leu1999Pro
CA369211229
NM_001127487.2:c.5996T>C