ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398367
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483007
ClinVar Variation:
423487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Leu1779Pro
CA16620201
NM_004380.3:c.5336T>C