ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580239245
Gene: CTBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364115.1:p.Ala193Val
CA355949278
NM_001377186.1:c.578C>T