ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645398363
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418148
ClinVar RCV Id:
RCV000480754
RCV002341123
RCV002525758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Thr1735Met
CA16620202
NM_004380.3:c.5204C>T