Allele Registry

Canonical Allele Identifier: PA2825831629

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002858

RCV000086167

RCV001075633

RCV003326112

RCV003448243

ClinVar Variation:

2737

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Ala183Val	CA227815 NM_001139443.2:c.548C>T