ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094297
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000419060
ClinVar Variation:
377310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Leu1507Pro
CA16603336
NM_004380.3:c.4520T>C