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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:
PA278991
Gene: RAD21
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216988
ClinVar RCV Id:
RCV000198309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006256.1:p.Leu603Pro
CA278989
NM_006265.3:c.1808T>C