ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580307575
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2231755
ClinVar RCV Id:
RCV002722924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Pro295Leu
CA394566032
NM_004380.3:c.884C>T