ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831475
Gene: NR2E3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055064.1:p.Pro399Thr
CA7640544
NM_014249.4:c.1195C>A