ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457584
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
981321
ClinVar RCV Id:
RCV001260695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Cys1691Tyr
CA394557786
NM_001079846.1:c.5072G>A