Allele Registry

Canonical Allele Identifier: PA092940

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002868

RCV002054410

ClinVar Variation:

2745

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Val239Met	CA115730 NM_004183.3:c.715G>A