ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271495
Gene: EP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158564
ClinVar RCV Id:
RCV000145956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001420.2:p.Pro1222His
CA271494
NM_001429.4:c.3665C>A