ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726666
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966126
ClinVar RCV Id:
RCV001240724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Phe71del
CA618960739
NM_016346.4:c.211_213del