Canonical Allele Identifier: PA1139710410
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 869444
ClinVar RCV Id: RCV001089539

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Cys1729Ser
CA394557784
NM_004380.3:c.5186G>C
CA394557792
NM_004380.3:c.5185T>A