ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232848
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143146
ClinVar RCV Id:
RCV000132671
RCV000666581
RCV001276065
RCV003888566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Glu121Lys
CA232847
NM_016346.4:c.361G>A