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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:
PA2830519178
Gene: FN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16324
ClinVar RCV Id:
RCV000017721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997639.2:p.Leu1793Arg
CA126366
NM_212474.3:c.5378T>G