ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499305794
Gene: RNF216
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996994.1:p.Met617Val
CA4148019
NM_207111.4:c.1849A>G