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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:
PA2825611768
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2578516
ClinVar RCV Id:
RCV003326292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119587.1:p.Asp192Asn
CA397835847
NM_001126115.1:c.574G>A