Allele Registry

Canonical Allele Identifier: PA227773

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000002856

RCV000086129

ClinVar Variation:

2735

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Glu119Gln	CA227772 NM_004183.3:c.355G>C