ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645493417
Gene: NR2E3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
317013
ClinVar RCV Id:
RCV000297664
RCV000369444
RCV001069768
RCV001119821
RCV003888733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057430.1:p.Ser137Phe
CA7640308
NM_016346.4:c.410C>T