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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:
PA2826563204
Gene: TP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826261
ClinVar RCV Id:
RCV001862310
RCV001025029
RCV002290554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263627.1:p.Asp49His
CA397840203
NM_001276698.3:c.145G>C