ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580308066
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2176777
ClinVar RCV Id:
RCV002610282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Arg2344Trp
CA394550755
NM_004380.3:c.7030C>T