Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825831919

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866930

ClinVar RCV Id: RCV001075322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001132915.1:p.Phe294Leu	CA380846329 NM_001139443.2:c.880T>C CA380846334 NM_001139443.2:c.882C>A CA380846335 NM_001139443.2:c.882C>G