Allele Registry

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.

Canonical Allele Identifier: PA2827681665

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 518649

ClinVar RCV Id: RCV000618552 RCV000645202 RCV001584431

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Asp727Asn	CA399490403 NM_001352777.2:c.2179G>A