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: PA2828098395

Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941146

ClinVar RCV Id: RCV001210869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350520.1:p.Thr144Ser	CA6040850 NM_001363591.2:c.431C>G CA380839561 NM_001363591.2:c.430A>T