Canonical Allele Identifier: PA2829483335
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346541
ClinVar RCV Id: RCV002041435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Arg331Pro
CA380846146
NM_004183.3:c.992G>C