Canonical Allele Identifier: PA2573092539
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310560
ClinVar RCV Id: RCV001767674

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057430.1:p.Gln46His
CA393031967
NM_016346.4:c.138G>C
CA393031968
NM_016346.4:c.138G>T