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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:
PA2826565648
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480767
ClinVar RCV Id:
RCV000573879
RCV002289800
RCV001858144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263689.1:p.Glu185Lys
CA397839791
NM_001276760.3:c.553G>A