Canonical Allele Identifier: PA2825831608
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99746
ClinVar RCV Id: RCV000086163

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Thr177Arg
CA227810
NM_001139443.2:c.530C>G