Canonical Allele Identifier: PA2825458541
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 592092
ClinVar RCV Id: RCV000723280

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Lys2399Asn
CA394550093
NM_001079846.1:c.7197G>T
CA394550094
NM_001079846.1:c.7197G>C