ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741908697
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2918144
ClinVar RCV Id:
RCV003761124
RCV003909142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ala254Ser
CA394559240
NM_004380.3:c.760G>T