Canonical Allele Identifier: PA1139741502
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940070
ClinVar RCV Id: RCV001209582 RCV003890357 RCV004538451
ClinVar Variation Id: 1346541
ClinVar RCV Id: RCV002041435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Gly399Arg
CA6040963
NM_001363592.1:c.1195G>A
CA380846146
NM_001363592.1:c.1195G>C