Canonical Allele Identifier: PA2826850509
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99686
ClinVar RCV Id: RCV000086094 RCV000262526 RCV000272476 RCV000357304 RCV000298984 RCV001103575
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Leu507Phe
CA227734
NM_001300787.2:c.1519C>T