Canonical Allele Identifier: PA2825831821
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99782
ClinVar RCV Id: RCV000086201 RCV001073777
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Thr247Ile
CA227854
NM_001139443.2:c.740C>T