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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:
PA2830153427
Gene: RAD51C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2698556
ClinVar RCV Id:
RCV003507639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478123.1:p.Leu39Arg
CA400337538
NM_058216.3:c.116T>G