Allele Registry

Canonical Allele Identifier: PA2825831231

Gene: BEST1 HGNC NCBI

ClinVar Allele:

17767

ClinVar RCV:

RCV000002847

RCV000086109

RCV001073456

ClinVar Variation:

2728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Tyr25His	CA227750 NM_001139443.2:c.73T>C