Canonical Allele Identifier: PA2828099101
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522530
ClinVar RCV Id: RCV000625673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Cys387Arg
CA380846047
NM_001363592.1:c.1159T>C