ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826520226
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_001257405.1:p.Glu49Lys
CA325480
NM_001270476.2:c.145G>A