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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:
PA2579935563
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1318554
ClinVar RCV Id:
RCV001753329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000537.3:p.Pro190_Pro191del
CA2573054590
NM_000546.6:c.567_572del