ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457606
Gene: CREBBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Ser1717Asn
CA7869302
NM_001079846.1:c.5150G>A