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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:
PA2579935562
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458551
ClinVar RCV Id:
RCV000557025
RCV001576499
RCV001024453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000537.3:p.Pro191del
CA645588836
NM_000546.6:c.572_574del