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: PA2826538750

Gene: AP3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499531

ClinVar RCV Id: RCV002010724

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258698.1:p.Phe884Leu	CA360331856 NM_001271769.2:c.2652T>G CA360331857 NM_001271769.2:c.2652T>A CA360331862 NM_001271769.2:c.2650T>C