ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828128220
Gene: CTCF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350845.1:p.Leu383_Ser385del
CA2573054253
NM_001363916.1:c.1148_1156del