ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: RBCK1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000371649.3:p.Gln185Ter
ENST00000382214.7:c.[552del;554A>T;556C>A...
ENST00000382214.7:c.553C>T