Canonical Allele Identifier: PA2825831932
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390960
ClinVar RCV Id: RCV000425735 RCV000850038
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Arg296Gln
CA6040977
NM_001139443.2:c.887G>A