ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825831877
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_001132915.1:p.Arg271Pro
CA380846146
NM_001139443.2:c.812G>C