ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830526480
Gene: RNF216
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996999.1:p.Arg516Cys
CA4148072
NM_207116.3:c.1546C>T