Allele Registry

Canonical Allele Identifier: PA2826850191

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV001057415

RCV002250720

ClinVar Variation:

852739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287716.1:p.Asp168His	CA380838733 NM_001300787.2:c.502G>C