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: PA2828098472

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 623155

ClinVar RCV Id: RCV000761261

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Phe199Leu	CA380843951 NM_001363591.2:c.595T>C CA380843959 NM_001363591.2:c.597T>G CA380843960 NM_001363591.2:c.597T>A