ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270112
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Arg122Cys
CA270110
NM_016346.4:c.364C>T