Canonical Allele Identifier: PA2499246869
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1041573
ClinVar RCV Id: RCV001345398

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Leu49Pro
CA380834385
NM_001300787.2:c.146T>C