Canonical Allele Identifier: PA645398553
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 423615
ClinVar RCV Id: RCV000480206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Leu2330Phe
CA16620193
NM_004380.3:c.6988C>T