Canonical Allele Identifier: PA2828098498
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 930889
ClinVar RCV Id: RCV001196866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Asp217Glu
CA380846083
NM_001363591.2:c.651T>A
CA380846085
NM_001363591.2:c.651T>G