ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111083
Gene: RNF216
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043627
ClinVar Variation:
50912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996999.1:p.Arg694Cys
CA143853
NM_207116.3:c.2080C>T