ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580462822
Gene: OCEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2465729
ClinVar RCV Id:
RCV004262848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078854.1:p.Arg164Cys
CA9289441
NM_024578.2:c.490C>T