ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825458438
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2646129
ClinVar RCV Id:
RCV003417609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Arg2315Gln
CA394550659
NM_001079846.1:c.6944G>A