ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271418
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000145756
ClinVar Variation:
158376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Tyr1482Cys
CA271417
NM_004380.3:c.4445A>G