Canonical Allele Identifier: PA2826850288
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511867
ClinVar RCV Id: RCV002016933
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Asp242Glu
CA380843892
NM_001300787.2:c.726T>A
CA380843899
NM_001300787.2:c.726T>G