Canonical Allele Identifier: PA2828098449
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99765
ClinVar RCV Id: RCV000086183

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Pro191Ala
CA227835
NM_001363591.2:c.571C>G