ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499282680
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Arg48Cys
CA7640223
NM_016346.4:c.142C>T