ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573208332
Gene: PPP2R1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1508700
ClinVar RCV Id:
RCV002016293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350585.1:p.Ala6Ser
CA407183592
NM_001363656.2:c.16G>T