Canonical Allele Identifier: PA2828098470
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936394
ClinVar RCV Id: RCV001205182
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Asp198Glu
CA380843935
NM_001363591.2:c.594T>A
CA380843947
NM_001363591.2:c.594T>G