ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891852141
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5531
ClinVar RCV Id:
RCV000005868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Cys67_Gly69del
CA891844159
NM_016346.4:c.200_208del