Canonical Allele Identifier: PA2828099070
Gene: BEST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2092821
ClinVar RCV Id: RCV003018394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350521.1:p.Trp358Arg
CA380843574
NM_001363592.1:c.1072T>A
CA380843580
NM_001363592.1:c.1072T>C