Allele Registry

Canonical Allele Identifier: PA2827203776

Gene: RBCK1 HGNC NCBI

ClinVar Allele:

424441

ClinVar RCV:

RCV000590988

ClinVar Variation:

430898

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310887.1:p.Cys201Phe	CA407934305 NM_001323958.2:c.602G>T