Allele Registry

Canonical Allele Identifier: PA2825831775

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002848

RCV000086186

ClinVar Variation:

2729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Gly239Glu	CA227838 NM_001139443.2:c.716G>A