Canonical Allele Identifier: PA2828098393
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1369486
ClinVar RCV Id: RCV001894912

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Phe142Leu
CA380839530
NM_001363591.2:c.424T>C
CA380839540
NM_001363591.2:c.426C>A
CA380839541
NM_001363591.2:c.426C>G