ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580307906
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1703236
ClinVar RCV Id:
RCV002280359
RCV003164411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Gln1853Pro
CA394556023
NM_004380.3:c.5558A>C