Canonical Allele Identifier: PA092940
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2745
ClinVar RCV Id: RCV000002868 RCV002054410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Val239Met
CA115730
NM_004183.3:c.715G>A