ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222673
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081029
RCV002265601
RCV002381401
RCV002514423
ClinVar Variation:
95024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ile457Val
CA222672
NM_004380.3:c.1369A>G