ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573085665
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1309234
ClinVar RCV Id:
RCV001765403
RCV002343826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ala1830Thr
CA394556209
NM_004380.3:c.5488G>A