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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:
PA2825613274
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2850523
ClinVar RCV Id:
RCV003623232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119588.1:p.Pro87Ala
CA397839917
NM_001126116.1:c.259C>G