Canonical Allele Identifier: PA2580307993
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2096733
ClinVar RCV Id: RCV003028290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Gln2130His
CA394553497
NM_004380.3:c.6390G>T
CA394553498
NM_004380.3:c.6390G>C