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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:
PA2825617856
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137906
ClinVar RCV Id:
RCV003064392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119590.1:p.Ala150Asp
CA397840870
NM_001126118.1:c.449C>A