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: PA2827680831

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 179756

ClinVar RCV Id: RCV000156554 RCV000253975 RCV000315534 RCV000393399 RCV000656851 RCV000692565 RCV001375636

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Thr19Ile	CA185075 NM_001352777.2:c.56C>T