Canonical Allele Identifier: PA2828098476
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99780
ClinVar RCV Id: RCV000086199
ClinVar Variation Id: 2117106
ClinVar RCV Id: RCV003039039
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Glu200Asp
CA227852
NM_001363591.2:c.600G>C
CA380843982
NM_001363591.2:c.600G>T