ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499257748
Gene: EP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1210940
ClinVar RCV Id:
RCV001583018
RCV003526087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001420.2:p.Pro157Thr
CA10252257
NM_001429.4:c.469C>A