Canonical Allele Identifier: PA2828098536
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310016
ClinVar RCV Id: RCV001757084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Phe253Ile
CA380846365
NM_001363591.2:c.757T>A
CA2573053529
NM_001363591.2:c.757_759delinsATA