ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825457637
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000623665
RCV001027717
RCV003231542
ClinVar Variation:
521543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Asn1751Ser
CA394557043
NM_001079846.1:c.5252A>G