Allele Registry

Canonical Allele Identifier: PA2828098788

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002860

RCV000086086

ClinVar Variation:

2738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Arg47His	CA227724 NM_001363592.1:c.140G>A