Canonical Allele Identifier: PA2828099100
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305123
ClinVar RCV Id: RCV000297886 RCV000392100 RCV000361992 RCV001500896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Pro386Arg
CA6040956
NM_001363592.1:c.1157C>G