ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826520237
Gene: PPP2R5D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257405.1:p.Pro50Arg
CA10575693
NM_001270476.2:c.149C>G