ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342076
Gene: CTNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026851.2:p.Leu158Pro
CA342075
NM_001031681.3:c.473T>C