ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398284
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000482966
ClinVar Variation:
421310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ile1453Thr
CA16620204
NM_004380.3:c.4358T>C