Canonical Allele Identifier: PA2828098977
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99735
ClinVar RCV Id: RCV000086150 RCV000763263 RCV000787543 RCV001073491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Arg218Cys
CA227795
NM_001363592.1:c.652C>T