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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:
PA2827680797
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518649
ClinVar RCV Id:
RCV000618552
RCV000645202
RCV001584431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Asp727Asn
CA399490403
NM_001352776.2:c.2179G>A