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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:
PA2826565169
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480751
ClinVar RCV Id:
RCV000572692
RCV001352113
RCV002289793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263689.1:p.Gln97Glu
CA397842769
NM_001276760.3:c.289C>G