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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:
PA2825613320
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406592
ClinVar RCV Id:
RCV000477098
RCV000564109
RCV003318578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119588.1:p.Pro90Ser
CA16615720
NM_001126116.1:c.268C>T