ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA147265
Gene: EP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93736
ClinVar RCV Id:
RCV000079673
RCV001664278
RCV001610362
RCV001664279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001420.2:p.Ile997Val
CA147264
NM_001429.4:c.2989A>G