Allele Registry

Canonical Allele Identifier: PA658756970

Gene: RBCK1 HGNC NCBI

ClinVar RCV:

RCV000590988

ClinVar Variation:

430898

HGVS (amino-acid)	Matching Registered Transcripts
NP_112506.2:p.Cys371Phe	CA407934305 NM_031229.4:c.1112G>T