Canonical Allele Identifier: PA645398274
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 376386
ClinVar RCV Id: RCV000418109 RCV000417475 RCV000422899 RCV000423976 RCV000428142 RCV000430512 RCV000434630 RCV000436449 RCV000438833 RCV000440084 RCV000441248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Arg1446Leu
CA16602825
NM_004380.3:c.4337G>T