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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:
PA2580511947
Gene: HFE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2445854
ClinVar RCV Id:
RCV003155773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620575.1:p.Trp94_Asp95delinsCysHis
CA2580074259
NM_139006.3:c.282_283delinsTC