ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825831880
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_001132915.1:p.Pro274Leu
CA6040964
NM_001139443.2:c.821C>T