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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:
PA2825603608
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692473
ClinVar RCV Id:
RCV002259224
RCV003094225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119585.1:p.Lys139Gln
CA397842680
NM_001126113.3:c.415A>C