Canonical Allele Identifier: PA227731
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99684
ClinVar RCV Id: RCV000086092 RCV000311148 RCV000350824 RCV000362495 RCV000408253 RCV001108733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Glu557Lys
CA227730
NM_004183.3:c.1669G>A