Allele Registry

Canonical Allele Identifier: PA2828099077

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002848

RCV000086186

ClinVar Variation:

2729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Glu367Lys	CA227838 NM_001363592.1:c.1099G>A