Canonical Allele Identifier: PA2825831798
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99777
ClinVar RCV Id: RCV000086196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asp243Glu
CA227849
NM_001139443.2:c.729T>A
CA380843915
NM_001139443.2:c.729T>G