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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:
PA2499271713
Gene: RAD50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018247
ClinVar RCV Id:
RCV001317517
RCV003478774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005723.2:p.Arg79Thr
CA360930294
NM_005732.3:c.236G>C