Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2828099150

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_001350522.1:p.Phe30Leu	CA380846329 NM_001363593.2:c.88T>C CA380846334 NM_001363593.2:c.90C>A CA380846335 NM_001363593.2:c.90C>G