Allele Registry

Canonical Allele Identifier: PA2828098365

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV001057415

RCV002250720

ClinVar Variation:

852739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Asp122His	CA380838733 NM_001363591.2:c.364G>C