Allele Registry

Canonical Allele Identifier: PA2825831560

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002850

RCV000086157

RCV001073354

ClinVar Variation:

2731

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Tyr167Asn	CA227804 NM_001139443.2:c.499T>A