Canonical Allele Identifier: PA2580308064
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1715274
ClinVar RCV Id: RCV002301107

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Asn2341Lys
CA394550784
NM_004380.3:c.7023C>G
CA394550785
NM_004380.3:c.7023C>A