Canonical Allele Identifier: PA2826849693
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999701
ClinVar RCV Id: RCV001295730 RCV001780238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Val83Leu
CA380835243
NM_001300786.2:c.247G>C