Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2580232771

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087266

ClinVar RCV Id: RCV003009474

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350521.1:p.Ser412Arg	CA222939941 NM_001363592.1:c.1236C>A CA380846248 NM_001363592.1:c.1234A>C CA380846253 NM_001363592.1:c.1236C>G