Allele Registry

Canonical Allele Identifier: PA2828098845

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002846

RCV000086116

RCV002971569

ClinVar Variation:

2727

2070989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Trp93Cys	CA227757 NM_001363592.1:c.279G>C CA380834047 NM_001363592.1:c.279G>T