Canonical Allele Identifier: PA645459698
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390960
ClinVar RCV Id: RCV000425735 RCV000850038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004174.1:p.Arg356Gln
CA6040977
NM_004183.3:c.1067G>A