ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658682004
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458204
ClinVar RCV Id:
RCV002231255
RCV002497075
RCV002316527
RCV003403260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ala2024Val
CA7869187
NM_004380.3:c.6071C>T