ClinGen Allele Registry
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Canonical Allele Identifier:
PA645493129
Gene: PPP2R1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376506
ClinVar RCV Id:
RCV000422450
RCV000420373
RCV000423122
RCV000430627
RCV000432728
RCV000433386
RCV000440878
RCV000444029
RCV000440118
RCV000520866
RCV001262898
RCV002225611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055040.2:p.Arg183Gln
CA16602938
NM_014225.6:c.548G>A