Canonical Allele Identifier: PA2825831573
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748
ClinVar RCV Id: RCV000002871 RCV000417725 RCV000787545 RCV001073474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asp168Asn
CA115732
NM_001139443.2:c.502G>A