ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828068557
Gene: EP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225898
ClinVar RCV Id:
RCV000211093
RCV003937797
RCV004546459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349772.1:p.Gln2166_Gln2169del
CA10253887
NM_001362843.2:c.6496_6507del