ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499267352
Gene: CREBBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ser1687Phe
CA394558449
NM_004380.3:c.5060C>T