ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117572
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Arg76Trp
CA117571
NM_016346.4:c.226C>T