Canonical Allele Identifier: PA2828098510
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517426
ClinVar RCV Id: RCV002041079
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Trp232_Asn233delinsCysTyr
CA2573147315
NM_001363591.2:c.696_697delinsCT