Canonical Allele Identifier: PA2826849692
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152114
ClinVar RCV Id: RCV003061583

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Val83Ala
CA380835254
NM_001300786.2:c.248T>C