Allele Registry

Canonical Allele Identifier: PA1139748903

Gene: RBCK1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_112506.2:p.Asp269Glu	CA9723199 NM_031229.4:c.807C>G CA310620658 NM_031229.4:c.807C>A