ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916076890
Gene: PPP2R5D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851308.1:p.Glu94Lys
CA325480
NM_180977.3:c.280G>A