ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398276
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376387
ClinVar RCV Id:
RCV000420453
RCV000424559
RCV000425211
RCV000425657
RCV000432858
RCV000433580
RCV000435262
RCV000437565
RCV000441923
RCV000441892
RCV000443540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Arg1446His
CA16602826
NM_004380.3:c.4337G>A