Allele Registry

Canonical Allele Identifier: PA1139706559

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV001064472

RCV001074422

ClinVar Variation:

858577

HGVS (amino-acid)	Matching Registered Transcripts
NP_004174.1:p.Thr6Ala	CA380830940 NM_004183.3:c.16A>G