ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658828098
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
559872
ClinVar RCV Id:
RCV000677660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Gly1479del
CA658823772
NM_004380.3:c.4436_4438del