ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457295
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376386
ClinVar RCV Id:
RCV000418109
RCV000417475
RCV000422899
RCV000423976
RCV000428142
RCV000430512
RCV000434630
RCV000436449
RCV000438833
RCV000440084
RCV000441248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Arg1408Leu
CA16602825
NM_001079846.1:c.4223G>T