ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829751220
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055064.1:p.Arg77Trp
CA7640247
NM_014249.4:c.229C>T