Canonical Allele Identifier: PA2825458501
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2231442
ClinVar RCV Id: RCV002708068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Met2370Leu
CA7868933
NM_001079846.1:c.7108A>C
CA394550274
NM_001079846.1:c.7108A>T