Canonical Allele Identifier: PA913198212
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 623155
ClinVar RCV Id: RCV000761261

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Phe305Leu
CA380843951
NM_004183.3:c.913T>C
CA380843959
NM_004183.3:c.915T>G
CA380843960
NM_004183.3:c.915T>A