ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241617
Gene: CTCF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177951.1:p.Arg49Cys
CA396314787
NM_001191022.2:c.145C>T