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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:
PA2827281800
Gene: TP63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418521
ClinVar RCV Id:
RCV000485320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316893.1:p.Ala639Val
CA16617859
NM_001329964.2:c.1916C>T