Canonical Allele Identifier: PA2826850325
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 930889
ClinVar RCV Id: RCV001196866

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Asp263Glu
CA380846083
NM_001300787.2:c.789T>A
CA380846085
NM_001300787.2:c.789T>G