Canonical Allele Identifier: PA2826850308
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137122
ClinVar RCV Id: RCV003058319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287716.1:p.Trp249Arg
CA380844028
NM_001300787.2:c.745T>A
CA380844029
NM_001300787.2:c.745T>C