Canonical Allele Identifier: PA2828098427
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 166746
ClinVar RCV Id: RCV000723944 RCV001270355 RCV001262506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Tyr178Cys
CA233532
NM_001363591.2:c.533A>G