Canonical Allele Identifier: PA2825831380
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750
ClinVar RCV Id: RCV000002875 RCV000726591 RCV000787540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Leu80Val
CA252412
NM_001139443.2:c.238C>G