Canonical Allele Identifier: PA2826850363
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310016
ClinVar RCV Id: RCV001757084

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Phe299Ile
CA380846365
NM_001300787.2:c.895T>A
CA2573053529
NM_001300787.2:c.895_897delinsATA