Canonical Allele Identifier: PA2825831738
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1455383
ClinVar RCV Id: RCV001958595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001132915.1:p.Gln233His
CA380843666
NM_001139443.2:c.699G>T
CA380843668
NM_001139443.2:c.699G>C