Canonical Allele Identifier: PA658756970
Gene: RBCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430898
ClinVar RCV Id: RCV000590988
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Amino-acid Alleles

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