ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830384990
Gene: PPP2R5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217456
ClinVar RCV Id:
RCV000201454
RCV000202069
RCV001265718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851307.1:p.Glu168Lys
CA325480
NM_180976.3:c.502G>A