ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830305259
Gene: EZH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694543.1:p.Gln515Lys
CA369713648
NM_152998.3:c.1543C>A