Canonical Allele Identifier: PA270112
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 143147
ClinVar RCV Id: RCV000132672 RCV000670387 RCV001075734 RCV001205439 RCV001831925 RCV004532584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057430.1:p.Arg122Cys
CA270110
NM_016346.4:c.364C>T