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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:
PA2827681649
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2926646
ClinVar RCV Id:
RCV003788884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Pro713Leu
CA8565000
NM_001352777.2:c.2138C>T