Canonical Allele Identifier: PA2825831293
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99713
ClinVar RCV Id: RCV000086125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Asp44Glu
CA227766
NM_001139443.2:c.132C>A
CA380834258
NM_001139443.2:c.132C>G