Canonical Allele Identifier: PA2828099089
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99782
ClinVar RCV Id: RCV000086201 RCV001073777
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Pro375Ser
CA227854
NM_001363592.1:c.1123C>T