Canonical Allele Identifier: PA2825831805
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936394
ClinVar RCV Id: RCV001205182
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asp244Glu
CA380843935
NM_001139443.2:c.732T>A
CA380843947
NM_001139443.2:c.732T>G