Canonical Allele Identifier: PA645484841
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 322836
ClinVar RCV Id: RCV000325694 RCV000382522 RCV001271645 RCV001532291 RCV002265730 RCV002521102 RCV003910226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004928.2:p.Ser39Leu
CA8291557
NM_004937.3:c.116C>T