ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825457337
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279963
ClinVar RCV Id:
RCV000334678
RCV000850544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Asp1442Gly
CA10603272
NM_001079846.1:c.4325A>G