Allele Registry

Canonical Allele Identifier: PA1139706817

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV001057415

RCV002250720

ClinVar Variation:

852739

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Asp228His	CA380838733 NM_004183.3:c.682G>C