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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:
PA300303
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182953
ClinVar RCV Id:
RCV000161055
RCV000554325
RCV000587915
RCV003488410
RCV000410841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119590.1:p.Pro33Cys
CA000069
NM_001126118.1:c.97_98delinsTG