Canonical Allele Identifier: PA2825831777
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_001132915.1:p.Gly239Arg
CA380843809
NM_001139443.2:c.715G>C
CA380843811
NM_001139443.2:c.715G>A