ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826849893
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390960
ClinVar RCV Id:
RCV000425735
RCV000850038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Arg269Gln
CA6040977
NM_001300786.2:c.806G>A