ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457670
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685672
ClinVar RCV Id:
RCV002249839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Gln1814_Arg1820del
CA2573152061
NM_001079846.1:c.5441_5461del