Allele Registry

Canonical Allele Identifier: PA2828098275

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002856

RCV000086129

ClinVar Variation:

2735

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Glu13Gln	CA227772 NM_001363591.2:c.37G>C