Canonical Allele Identifier: PA2825831559
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749
ClinVar RCV Id: RCV000002873 RCV000002874 RCV000086158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Tyr167Cys
CA115733
NM_001139443.2:c.500A>G