Canonical Allele Identifier: PA2580232769
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180873
ClinVar RCV Id: RCV002603043
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Leu389Pro
CA6040957
NM_001363592.1:c.1166T>C