ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826849865
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037476
ClinVar RCV Id:
RCV001340636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287715.1:p.Pro247Leu
CA6040964
NM_001300786.2:c.740C>T