Canonical Allele Identifier: PA2829665467
Gene: RBCK1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006453.1:p.Asp227Glu
CA9723199
NM_006462.6:c.681C>G
CA310620658
NM_006462.6:c.681C>A