ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828068683
Gene: EP300
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349772.1:p.Ser2345Leu
CA10254033
NM_001362843.2:c.7034C>T