ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573085685
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305684
ClinVar RCV Id:
RCV001768891
RCV004040120
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Arg2344Gln
CA7868960
NM_004380.3:c.7031G>A