Canonical Allele Identifier: PA2826850362
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305125
ClinVar RCV Id: RCV000269600 RCV000300553 RCV000333972 RCV000388625 RCV000885201 RCV001106455 RCV003888716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Ala297Val
CA6040979
NM_001300787.2:c.890C>T