Canonical Allele Identifier: PA2826849607
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99695
ClinVar RCV Id: RCV000086104 RCV001073510 RCV004529902
ClinVar Variation Id: 1459557
ClinVar RCV Id: RCV001959058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Phe20Leu
CA227745
NM_001300786.2:c.60C>A
CA380833825
NM_001300786.2:c.58T>C
CA380833835
NM_001300786.2:c.60C>G