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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:
PA2826450939
Gene: FDXR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441237
ClinVar RCV Id:
RCV000509578
RCV002527390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244943.2:p.Arg298Cys
CA8752982
NM_001258014.4:c.892C>T