Canonical Allele Identifier: PA2828098526
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866930
ClinVar RCV Id: RCV001075322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Phe248Leu
CA380846329
NM_001363591.2:c.742T>C
CA380846334
NM_001363591.2:c.744C>A
CA380846335
NM_001363591.2:c.744C>G