Canonical Allele Identifier: PA645459696
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 386501
ClinVar RCV Id: RCV001106450 RCV001105325 RCV001060186 RCV001105324 RCV002466499 RCV003889889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Ala352Thr
CA6040973
NM_004183.3:c.1054G>A