Canonical Allele Identifier: PA2828099085
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2117106
ClinVar RCV Id: RCV003039039
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Arg374Ile
CA380843982
NM_001363592.1:c.1121G>T