ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580569870
Gene: RNF216
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2192082
ClinVar RCV Id:
RCV002633089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996994.1:p.Ile720Val
CA4147895
NM_207111.4:c.2158A>G