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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:
PA658679087
Gene: RAD50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484715
ClinVar RCV Id:
RCV000572038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005723.2:p.Gln861Arg
CA360956436
NM_005732.3:c.2582A>G