ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102170
Gene: RNF216
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996994.1:p.Arg717Cys
CA366713431
NM_207111.4:c.2149C>T