Canonical Allele Identifier: PA2828098364
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748
ClinVar RCV Id: RCV000002871 RCV000417725 RCV000787545 RCV001073474
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Asp122Asn
CA115732
NM_001363591.2:c.364G>A