Canonical Allele Identifier: PA092056
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99735
ClinVar RCV Id: RCV000086150 RCV000763263 RCV000787543 RCV001073491
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Arg218Cys
CA227795
NM_004183.3:c.652C>T