Allele Registry

Canonical Allele Identifier: PA092023

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002858

RCV000086167

RCV001075633

RCV003326112

RCV003448243

ClinVar Variation:

2737

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Ala243Val	CA227815 NM_004183.3:c.728C>T