Canonical Allele Identifier: PA2580307976
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1716042
ClinVar RCV Id: RCV002303184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Met2042Leu
CA394554169
NM_004380.3:c.6124A>T
CA394554170
NM_004380.3:c.6124A>C