ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829751247
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1955728
ClinVar RCV Id:
RCV002720076
RCV003357979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055064.1:p.Val85Met
CA272574964
NM_014249.4:c.253G>A