Canonical Allele Identifier: PA2828099077
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_001350521.1:p.Glu367Lys
CA227838
NM_001363592.1:c.1099G>A