ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828695180
Gene: CTBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364122.1:p.Ala182Val
CA355949278
NM_001377193.1:c.545C>T