ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828068580
Gene: EP300
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349772.1:p.Pro2195Gln
CA250542
NM_001362843.2:c.6584C>A