ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825456107
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414631
ClinVar Variation:
373590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Cys367Phe
CA16042987
NM_001079846.1:c.1100G>T