Canonical Allele Identifier: PA2825458425
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1715274
ClinVar RCV Id: RCV002301107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Asn2303Lys
CA394550784
NM_001079846.1:c.6909C>G
CA394550785
NM_001079846.1:c.6909C>A