Canonical Allele Identifier: PA2828098532
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_001350520.1:p.Arg250Gln
CA6040977
NM_001363591.2:c.749G>A