Canonical Allele Identifier: PA2826849862
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 940070
ClinVar RCV Id: RCV001209582 RCV003890357 RCV004538451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287715.1:p.Arg244Gln
CA6040963
NM_001300786.2:c.731G>A