ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829775172
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_055650.1:p.Lys266Arg
CA9938575
NM_014835.5:c.797A>G