Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825831212

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99695

ClinVar RCV Id: RCV000086104 RCV001073510 RCV004529902

ClinVar Variation Id: 1459557

ClinVar RCV Id: RCV001959058

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Phe20Leu	CA227745 NM_001139443.2:c.60C>A CA380833825 NM_001139443.2:c.58T>C CA380833835 NM_001139443.2:c.60C>G