ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828694334
Gene: CTBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364116.1:p.Ile83Met
CA355956846
NM_001377187.1:c.249C>G