Canonical Allele Identifier: PA2825457592
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1309652
ClinVar RCV Id: RCV001754935

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Lys1698Asn
CA394557680
NM_001079846.1:c.5094G>T
CA394557682
NM_001079846.1:c.5094G>C