ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825457669
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432137
ClinVar RCV Id:
RCV000497928
RCV001265899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Arg1813Cys
CA7869272
NM_001079846.1:c.5437C>T