Canonical Allele Identifier: PA2825831919
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_001132915.1:p.Phe294Leu
CA380846329
NM_001139443.2:c.880T>C
CA380846334
NM_001139443.2:c.882C>A
CA380846335
NM_001139443.2:c.882C>G