ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240725
Gene: CREBBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ser1030Phe
CA240724
NM_004380.3:c.3089C>T