ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094277
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24472
ClinVar RCV:
RCV000010040
RCV000255660
RCV001260694
RCV001267080
RCV001813970
RCV002496320
ClinVar Variation:
9433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Glu1278Lys
CA254815
NM_004380.3:c.3832G>A