Canonical Allele Identifier: PA092042
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2740
ClinVar RCV Id: RCV000002862 RCV000002863 RCV000086135 RCV000787541 RCV001075875 RCV004532276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Arg141His
CA115724
NM_004183.3:c.422G>A