Canonical Allele Identifier: PA092368
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99780
ClinVar RCV Id: RCV000086199
ClinVar Variation Id: 2117106
ClinVar RCV Id: RCV003039039

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Glu306Asp
CA227852
NM_004183.3:c.918G>C
CA380843982
NM_004183.3:c.918G>T