ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094329
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000022942
RCV000145728
RCV000421582
RCV001087789
RCV001252206
RCV002224958
RCV002311524
RCV003974853
ClinVar Variation:
30042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Thr910Ala
CA171789
NM_004380.3:c.2728A>G