Canonical Allele Identifier: PA916018988
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_001287716.1:p.Arg81His
CA115724
NM_001300787.2:c.242G>A