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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:
PA2825579995
Gene: TP63
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478110
ClinVar RCV Id:
RCV000559680
RCV000851194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108451.1:p.His247Tyr
CA355753773
NM_001114979.2:c.739C>T