Canonical Allele Identifier: PA2825831613
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 987303
ClinVar RCV Id: RCV001268629

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Gln178Arg
CA380838958
NM_001139443.2:c.533A>G