ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085846666
Gene: RUVBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006657.1:p.Leu205Val
CA9563835
NM_006666.3:c.613C>G