Allele Registry

Canonical Allele Identifier: PA2826849813

Gene: BEST1 HGNC NCBI

ClinVar RCV:

RCV000132651

RCV001781480

RCV002478405

RCV003888561

ClinVar Variation:

143127

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287715.1:p.Arg195Trp	CA270085 NM_001300786.2:c.583C>T