Canonical Allele Identifier: PA2828098453
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2735635
ClinVar RCV Id: RCV003557611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350520.1:p.Gly193Arg
CA380843809
NM_001363591.2:c.577G>C
CA380843811
NM_001363591.2:c.577G>A