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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:
PA2827681142
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212751
ClinVar RCV Id:
RCV000194635
RCV001853126
RCV002415828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Arg265His
CA208935
NM_001352777.2:c.794G>A