ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827345861
Gene: CTBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001319.1:p.Val66Ile
CA355957182
NM_001328.3:c.196G>A