Canonical Allele Identifier: PA092423
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2729
ClinVar RCV Id: RCV000002848 RCV000086186
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Gly299Glu
CA227838
NM_004183.3:c.896G>A