Allele Registry

Canonical Allele Identifier: PA2825831329

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002856

RCV000086129

ClinVar Variation:

2735

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Glu59Gln	CA227772 NM_001139443.2:c.175G>C