Canonical Allele Identifier: PA2499267354
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1098414
ClinVar RCV Id: RCV001420341
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Asn1789Lys
CA394557040
NM_004380.3:c.5367C>G
CA394557041
NM_004380.3:c.5367C>A