ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099127
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346541
ClinVar RCV Id:
RCV002041435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350522.1:p.Arg7Pro
CA380846146
NM_001363593.2:c.20G>C