ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829398182
Gene: RBBP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1430734
ClinVar RCV Id:
RCV001931564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002885.1:p.Ala383Thr
CA8910026
NM_002894.3:c.1147G>A