ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093951
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055064.1:p.Arg97His
CA393032536
NM_014249.4:c.290G>A