Canonical Allele Identifier: PA2741909276
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2634305
ClinVar RCV Id: RCV003427873

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.His2134Gln
CA394553469
NM_004380.3:c.6402C>G
CA394553470
NM_004380.3:c.6402C>A