ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271497
Gene: EP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158567
ClinVar RCV Id:
RCV000145959
RCV003430709
RCV003927427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001420.2:p.Ile196Val
CA271496
NM_001429.4:c.586A>G