Allele Registry

Canonical Allele Identifier: PA2573237204

Gene: BEST1 HGNC NCBI

ClinVar Variation Id: 1369486

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Phe248Leu	CA380839530 NM_004183.3:c.742T>C CA380839540 NM_004183.3:c.744C>A CA380839541 NM_004183.3:c.744C>G