Allele Registry

Canonical Allele Identifier: PA092910

Gene: BEST1 HGNC NCBI

ClinVar Allele:

17767

ClinVar RCV:

RCV000002847

RCV000086109

RCV001073456

ClinVar Variation:

2728

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Tyr85His	CA227750 NM_004183.3:c.253T>C