ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580307580
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2210594
ClinVar RCV Id:
RCV002686846
RCV003420409
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Val322Met
CA277007739
NM_004380.3:c.964G>A