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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:
PA2827031500
Gene: RAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623919
ClinVar RCV Id:
RCV000761979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306003.2:p.Arg167Gln
CA9085029
NM_001319074.4:c.500G>A