ClinGen Allele Registry
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Canonical Allele Identifier:
PA117574
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5530
ClinVar RCV Id:
RCV000005867
RCV000261496
RCV000668029
RCV001045323
RCV001075864
RCV001449793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Arg76Gln
CA117573
NM_016346.4:c.227G>A