ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125511
Gene: OSBPL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499502
ClinVar RCV Id:
RCV000594541
RCV003302913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350807.1:p.Lys186Arg
CA9938575
NM_001363878.2:c.557A>G