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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:
PA2825580892
Gene: TP63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6531
ClinVar RCV Id:
RCV000006904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108454.1:p.Lys139Glu
CA118337
NM_001114982.2:c.415A>G