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Canonical Allele Identifier: Get Identifier
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