ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654566
Gene: OSGEP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444890
ClinVar RCV Id:
RCV000512749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060277.1:p.Arg280His
CA7081067
NM_017807.4:c.839G>A