Canonical Allele Identifier: PA2825458121
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2634305
ClinVar RCV Id: RCV003427873

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.His2096Gln
CA394553469
NM_001079846.1:c.6288C>G
CA394553470
NM_001079846.1:c.6288C>A