Allele Registry

Canonical Allele Identifier: PA2825831567

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV001057415

RCV002250720

ClinVar Variation:

852739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Asp168His	CA380838733 NM_001139443.2:c.502G>C