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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:
PA2825607118
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500748
ClinVar RCV Id:
RCV002015887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119586.1:p.Lys139Arg
CA397842677
NM_001126114.3:c.416A>G