ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580255924
Gene: EP300
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001420.2:p.Ser2371Leu
CA10254033
NM_001429.4:c.7112C>T