ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828044746
Gene: PPP2CA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219302
ClinVar RCV Id:
RCV000206439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341948.1:p.Phe243del
CA350470
NM_001355019.2:c.727_729del