ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726756
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867089
ClinVar RCV Id:
RCV001075623
RCV001202142
RCV001836119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Arg97His
CA393032536
NM_016346.4:c.290G>A