ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580308061
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2118250
ClinVar RCV Id:
RCV003030383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ala2336Thr
CA276971136
NM_004380.3:c.7006G>A