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: PA2825457952

Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1691020

ClinVar RCV Id: RCV002252612

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Arg1999Ser	CA394554198 NM_001079846.1:c.5997G>T CA394554199 NM_001079846.1:c.5997G>C