ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248674
Gene: CREBBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Leu551Ile
CA248673
NM_004380.3:c.1651C>A