ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828693438
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_001364085.1:p.Ile663Val
CA4147895
NM_001377156.1:c.1987A>G