Canonical Allele Identifier: PA2829483166
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375458
ClinVar RCV Id: RCV001883355
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Asp118Asn
CA380834616
NM_004183.3:c.352G>A