Canonical Allele Identifier: PA2825831786
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708406
ClinVar RCV Id: RCV002287779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asp241His
CA380843856
NM_001139443.2:c.721G>C