ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016975
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
807979
ClinVar RCV Id:
RCV000996195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.His1740Asn
CA394557640
NM_004380.3:c.5218C>A