ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658756970
Gene: RBCK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000590988
ClinVar Variation:
430898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112506.2:p.Cys371Phe
CA407934305
NM_031229.4:c.1112G>T