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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:
PA2826561782
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2679228
ClinVar RCV Id:
RCV003464698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263625.1:p.Pro283Arg
CA397835872
NM_001276696.3:c.848C>G