Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827679753

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1778853

ClinVar RCV Id: RCV003097180 RCV002399117

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Met575Ile	CA399492943 NM_001352775.2:c.1725G>T CA399492945 NM_001352775.2:c.1725G>C CA399492947 NM_001352775.2:c.1725G>A