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: PA2827681639

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1490142

ClinVar RCV Id: RCV001983604

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Met704Ile	CA399490728 NM_001352777.2:c.2112G>C CA399490729 NM_001352777.2:c.2112G>A CA399490730 NM_001352777.2:c.2112G>T