ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825312850
Gene: CTBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225758
ClinVar RCV Id:
RCV000211044
RCV000595812
RCV000624918
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001012632.1:p.Arg331Trp
CA10576090
NM_001012614.2:c.991C>T