ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495254
Gene: PPP2R5D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006236.1:p.Asp251Val
CA16618288
NM_006245.4:c.752A>T