Canonical Allele Identifier: PA2825831465
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99725
ClinVar RCV Id: RCV000086140 RCV000490256 RCV000678528 RCV002477254 RCV002247491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Ala135Val
CA227785
NM_001139443.2:c.404C>T