Canonical Allele Identifier: PA2573085662
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1303132
ClinVar RCV Id: RCV001756631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Thr1735Arg
CA394557697
NM_004380.3:c.5204C>G