ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222693
Gene: CREBBP
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004371.2:p.Gln1113Ter
NM_004380.3:c.3337C>T