Canonical Allele Identifier: PA092272
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99774
ClinVar RCV Id: RCV000086193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Asp302His
CA227846
NM_004183.3:c.904G>C