Canonical Allele Identifier: PA2829483354
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866930
ClinVar RCV Id: RCV001075322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Phe354Leu
CA380846329
NM_004183.3:c.1060T>C
CA380846334
NM_004183.3:c.1062C>A
CA380846335
NM_004183.3:c.1062C>G