Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573085639

Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1302981

ClinVar RCV Id: RCV001756480 RCV001882821 RCV002496068 RCV002539869 RCV003931312

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Met866Ile	CA7870068 NM_004380.3:c.2598G>T CA394551532 NM_004380.3:c.2598G>C CA394551534 NM_004380.3:c.2598G>A