Allele Registry

Canonical Allele Identifier: PA2580287596

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV003055833

ClinVar Variation:

2128116

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Arg47Leu	CA380832164 NM_004183.3:c.140G>T