Allele Registry

Canonical Allele Identifier: PA092864

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002850

RCV000086157

RCV001073354

ClinVar Variation:

2731

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Tyr227Asn	CA227804 NM_004183.3:c.679T>A