ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830473571
Gene: RBBP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5824
ClinVar RCV Id:
RCV000006180
RCV001851692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_976036.1:p.Lys337Glu
CA117794
NM_203291.2:c.1009A>G