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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:
PA2825601176
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
827135
ClinVar RCV Id:
RCV001026586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119584.1:p.Thr253dup
CA915949526
NM_001126112.3:c.758_760dup