Canonical Allele Identifier: PA2826849608
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058157
ClinVar RCV Id: RCV001367254
ClinVar Variation Id: 1501574
ClinVar RCV Id: RCV002042843

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Val21Leu
CA380833839
NM_001300786.2:c.61G>C
CA380833841
NM_001300786.2:c.61G>T