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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:
PA2825604691
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1754112
ClinVar RCV Id:
RCV002364323
RCV004054380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119585.1:p.Val218Glu
CA397839938
NM_001126113.3:c.653T>A