ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457102
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002226836
ClinVar Variation:
1679239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Glu1240Gln
CA394567311
NM_001079846.1:c.3718G>C