Allele Registry

Canonical Allele Identifier: PA092423

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002848

RCV000086186

ClinVar Variation:

2729

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Gly299Glu	CA227838 NM_004183.3:c.896G>A