ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828098852
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835780
ClinVar RCV Id:
RCV001036747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Tyr97Cys
CA222936252
NM_001363592.1:c.290A>G