ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580378319
Gene: CIC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055940.3:p.Ala307Val
CA406099966
NM_015125.5:c.920C>T