ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158115
Gene: CIC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133898
ClinVar RCV Id:
RCV000120565
RCV003144132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055940.3:p.Ser734Leu
CA158114
NM_015125.5:c.2201C>T