ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825458483
Gene: CREBBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.His2361Tyr
CA7868936
NM_001079846.1:c.7081C>T