Canonical Allele Identifier: PA2828098379
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746
ClinVar RCV Id: RCV000002869 RCV003555902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Tyr130Cys
CA115731
NM_001363591.2:c.389A>G