ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826520224
Gene: PPP2R5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190286
ClinVar RCV Id:
RCV000170482
RCV000202079
RCV000623917
RCV001420208
RCV001255395
RCV001261364
RCV002273972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257405.1:p.Glu47Lys
CA325481
NM_001270476.2:c.139G>A