Canonical Allele Identifier: PA092815
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2732
ClinVar RCV Id: RCV000002851 RCV000086095
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Thr6Pro
CA227736
NM_004183.3:c.16A>C