ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825312700
Gene: CTBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001012632.1:p.Val55Ile
CA355957182
NM_001012614.2:c.163G>A