Canonical Allele Identifier: PA2825457635
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1098414
ClinVar RCV Id: RCV001420341

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Asn1751Lys
CA394557040
NM_001079846.1:c.5253C>G
CA394557041
NM_001079846.1:c.5253C>A