Canonical Allele Identifier: PA2499266110
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037476
ClinVar RCV Id: RCV001340636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Pro334Leu
CA6040964
NM_004183.3:c.1001C>T