ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580308051
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1710683
ClinVar RCV Id:
RCV002291970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ile2305Thr
CA394551251
NM_004380.3:c.6914T>C