Canonical Allele Identifier: PA2825831925
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305124
ClinVar RCV Id: RCV000273316 RCV000328299 RCV000364308 RCV000406541 RCV001106451 RCV001238318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Arg295His
CA6040975
NM_001139443.2:c.884G>A