ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099061
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166746
ClinVar RCV Id:
RCV000723944
RCV001270355
RCV001262506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350521.1:p.Tyr284Cys
CA233532
NM_001363592.1:c.851A>G